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Holocarboxylase Synthetase Deficiency: Disease Bioinformatics

Research of Holocarboxylase Synthetase Deficiency has been linked to Multiple Carboxylase Deficiency, Acidosis, Metabolic Acidosis, Inborn Errors Of Metabolism, Biotinidase Deficiency. The study of Holocarboxylase Synthetase Deficiency has been mentioned in research publications which can be found using our bioinformatics tool below. Researched pathways related to Holocarboxylase Synthetase Deficiency include Excretion, Response To Biotin, Gluconeogenesis, Transport, Biotin Transport. These pathways complement our catalog of research reagents for the study of Holocarboxylase Synthetase Deficiency including antibodies and ELISA kits against 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE, BTD, CD80, CSF2, CYP17A1.

Top Research Reagents

We have 2545 products for the study of Holocarboxylase Synthetase Deficiency that can be applied to Chromatin Immunoprecipitation (ChIP), Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

OCTN2/SLC22A5 Antibody (893753) [Unconjugated]
MAB11004
HEK293 human embryonic kidney cell line transfected with (A) human OCTN2/SLC22A5 or (B) irrelevant protein, and eGFP was stained with Mouse Anti-Human OCTN2/SLC22A5 Monoclonal Antibody (Catalog # MAB11004) followed by Allophycocyanin-conjugated Anti-Mouse IgG Secondary Antibody (<a class=NoLineLink href=

Mouse Monoclonal
Species Human
Applications Flow

MeCP2 Antibody
NB100-56326
Western Blot: MeCP2 Antibody [NB100-56326] - Analysis of MeCP2 in HeLa cell lysate using this antibody.Immunocytochemistry/Immunofluorescence: MeCP2 Antibody [NB100-56326] - This antibody was tested in A431 cells at a 1:200 dilution against Dylight 488 (Green). Alpha tubulin and nuclei were counterstained against Dylight 568 (Red) and DAPI (Blue), respectively.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, ICC/IF, IHC

1 Publication
MLYCD Antibody
NBP1-32797
Immunohistochemistry-Paraffin: MLYCD Antibody [NBP1-32797] - Mouse muscle. MCD antibody [N2C1], Internal dilution: 1:500. Antigen Retrieval: Trilogy™ (EDTA based, pH 8.0) buffer, 15min.Western Blot: MLYCD Antibody [NBP1-32797] - Various tissue extracts (50 ug) were separated by 7.5% SDS-PAGE, and the membrane was blotted with MCD antibody [N2C1], Internal diluted at 1:1000. The HRP-conjugated anti-rabbit IgG antibody (NBP2-19301) was used to detect the primary antibody.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, IHC

     1 Review

SLC25A13 Antibody
NBP1-33380
Western Blot: SLC25A13 Antibody [NBP1-33380] - Wild-type (WT) and SLC25A13 knockout (KO) HeLa cell extracts (30 ug) were separated by 7.5% SDS-PAGE, and the membrane was blotted with SLC25A13 antibody diluted at 1:3000. HRP-conjugated anti-rabbit IgG antibody was used to detect the primary antibody.Immunocytochemistry/Immunofluorescence: SLC25A13 Antibody [NBP1-33380] - HeLa cells were fixed in 4% paraformaldehyde at RT for 15 min. Green: SLC25A13 protein stained by SLC25A13 antibody [N3C2], Internal diluted at 1:500. Blue: Hoechst 33342 staining.

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

Pyruvate Carboxylase Antibody - BSA Free
NBP1-49536
Immunocytochemistry/Immunofluorescence: Pyruvate Carboxylase Antibody [NBP1-49536] - HeLa cells were fixed in 4% paraformaldehyde for 10 min and permeabilized in 0.05% Triton X-100 in PBS for 5 minutes. The cells were incubated with anti- (NBP1-49536) at 10 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:500 dilution for 60 minutes. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 100X objective and digitally deconvolved.Western Blot: Pyruvate Carboxylase Antibody [NBP1-49536] - Analysis of Pyruvate Carboxylase in A. Human liver extracts and B. Mouse liver extracts

Rabbit Polyclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

17 Publications
Glutaminyl-peptide Cyclotransferase/QPCT Antibody
NBP1-81838
Immunohistochemistry-Paraffin: Glutaminyl-peptide Cyclotransferase/QPCT Antibody [NBP1-81838] - Staining in human adrenal gland and liver tissues using anti-QPCT antibody. Corresponding QPCT RNA-seq data are presented for the same tissues.Western Blot: Glutaminyl-peptide Cyclotransferase/QPCT Antibody [NBP1-81838] - Analysis in human cell line SK-MEL-30.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, IHC, IHC-P

1 Publication
Cytochrome P450 17A1 Antibody (OTI3F11)
NBP2-01151
Western Blot: Cytochrome P450 17A1 Antibody (3F11) [NBP2-01151] - HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY Cytochrome P450 17A1 (Right lane) cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 ug per lane) were separated by SDS-PAGE and immunoblotted with anti-Cytochrome P450 17A1.Immunohistochemistry: Cytochrome P450 17A1 Antibody (OTI3F11) [NBP2-01151] - Staining in macaque Leydig cells. Image from a verified customer review.

Mouse Monoclonal
Species Human
Applications WB, Flow, IHC

     2 Reviews

6 Publications
HLCS Antibody (OTI1E4)
NBP2-01859
Western Blot: HLCS Antibody (1E4) [NBP2-01859] - HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY HLCS (Right lane) cDNA for 48 hrs and lysed. Equivalent amounts of cell lysates (5 ug per lane) were separated by SDS-PAGE and immunoblotted with anti-HLCS.Immunohistochemistry-Paraffin: HLCS Antibody (1E4) [NBP2-01859] Staining of paraffin-embedded Carcinoma of Human prostate tissue using anti-HLCS mouse monoclonal antibody.

Mouse Monoclonal
Species Human
Applications WB, Flow, IHC

MTSS1 Antibody
NBP2-24716
Western Blot: MTSS1 Antibody [NBP2-24716] - Analysis of MTSS1 in human testis lysate in the 1) absence and 2) presence of immunizing peptide, 3) mouse and 4) rat testis lysate using NBP2-24716 at 2 ug/ml, 4 ug/ml and 2 ug/ml, respectively.Immunohistochemistry-Paraffin: MTSS1 Antibody [NBP2-24716] - Analysis of human colon using this antibody at 10 ug/ml.

Rabbit Polyclonal
Species Human, Mouse, Primate
Applications WB, ICC/IF, IHC

2 Publications
CD117/c-kit Antibody [Unconjugated]
AF1356
CD117/c-kit was detected in immersion fixed frozen sections of mouse embryo using Goat Anti-Human/Mouse CD117/c-kit Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1356) at 15 µg/mL overnight at 4 °C. Tissue was stained using the Anti-Goat HRP-DAB Cell & Tissue Staining Kit (brown; Catalog # <a class=Western blot shows lysates of MO7e human megakaryocytic leukemic cell line, P815 mouse mastocytoma cell line, and MC/9-2 mouse mast cell line. PVDF membrane was probed with 0.1 µg/mL of Goat Anti-Human/Mouse CD117/c-kit Antigen Affinity-purified Polyclonal Antibody (Catalog # AF1356) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (Catalog # <a class=

Goat Polyclonal
Species Human, Mouse
Applications WB, Simple Western, Flow

     4 Reviews

116 Publications
GM-CSF [Unconjugated]
7954-GM/CF
Measured in a cell proliferation assay using TF-1 human erythroleukemic cells. The ED<sub>50</sub> for this effect is 6-30 pg/mL.


Species Human
Applications BA

3 Publications
B7-1/CD80 Antibody (37711) [Unconjugated]
MAB140
Raji human Burkitt's lymphoma cell line was stained with Mouse Anti-Human B7-1/CD80 Monoclonal Antibody (Catalog # MAB140, filled histogram) or isotype control antibody (Catalog # <a class=<P align=left>Recombinant Human B7‑1/CD80 Fc Chimera (Catalog # <A class=NoLineLink href=

Mouse Monoclonal
Species Human
Applications Flow, IHC, CyTOF-ready

26 Publications
LAMC2 Antibody (CL2980)
NBP2-42388
Immunohistochemistry-Paraffin: LAMC2 Antibody (CL2980) [NBP2-42388] - Staining in human fallopian tube and liver tissues. Corresponding LAMC2 RNA-seq data are presented for the same tissues.Western Blot: LAMC2 Antibody (CL2980) [NBP2-42388] - Analysis in A-431 cells transfected with control siRNA, target specific siRNA probe #1 and #2, using Anti-LAMC2 antibody. Remaining relative intensity is presented. Loading control: Anti-GAPDH.

Mouse Monoclonal
Species Human
Applications WB, ICC/IF, IHC

4 Publications
ACAA2 Antibody (OTI1C10)
NBP2-46477
Western Blot: ACAA2 Antibody (OTI1C10) [NBP2-46477] - Analysis of extracts (35ug) from 9 different cell lines (HepG2: human; HeLa: human; SVT2: mouse; A549: human; COS7: monkey; Jurkat: human; MDCK: canine; PC12: rat; MCF7: human).Immunohistochemistry: ACAA2 Antibody (OTI1C10) [NBP2-46477] - Analysis of Human endometrium tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, ICC/IF, IHC

SP8 Antibody
NBP2-49109
Immunocytochemistry/Immunofluorescence: SP8 Antibody [NBP2-49109] - Staining of human cell line PC-3 shows localization to nucleus. Antibody staining is shown in green.Immunohistochemistry-Paraffin: SP8 Antibody [NBP2-49109] - Staining of human kidney shows no positivity in cells in tubules as expected.

Rabbit Polyclonal
Species Human, Mouse
Applications ICC/IF, IHC, IHC-P

2 Publications
DNMT1 Antibody (60B1220.1) - BSA Free
NB100-56519
Western Blot: DNMT1 Antibody (60B1220.1) [NB100-56519] - Analysis of Dnmt1 in 2102EP (human embryonic carcinoma) in the A) absence and B) presence of immunizing peptide, recombinant human Dnmt1 protein in the C) absence and D) presence of immunizing peptide, NIH 3T3 (mouse embryonic fribroblast) in the E) absence and F) presence of immunizing peptide, and D3 (mouse embryonic stem cell) in the G) absence and H) presence of immunizing peptide using Dnmt1 antibody. this antibody. 5 ug/ml for testing the human cell line and 0.1 ug/ml was used for testing the recombinant protein and the mouse cell lines. ’s goat anti-mouse Ig HRP secondary antibody and PicoTect ECL substrate solution were used for this test.Immunocytochemistry/Immunofluorescence: DNMT1 Antibody (60B1220.1) [NB100-56519] - Dnmt1 antibody was tested in HeLa cells with Dylight 488 (green). Nuclei and alpha-tubulin were counterstained with DAPI (blue) and DyLight 550 (red). Antibody dilution of 1:10 was used. Image objective 40x.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, Flow

     4 Reviews

144 Publications
Cytochrome c Antibody (7H8.2C12) - BSA Free
NB100-56503
Western Blot: Cytochrome c Antibody (7H8.2C12) [NB100-56503] - Metformin activates apoptotic cell death; Right panel: MCF-7 cells were kept in the presence or absence of metformin for 20 days and then processed to obtain mitochondrial or whole cellular extracts. BAX and CYCS expression levels were determined by Western blot as indicated under Material and Methods. Densitometric analysis of the gels was performed as indicated under Material and Methods. PHB and CDK4 were used as purity and loading controls. Image collected and cropped by CiteAb from the following publication (https://www.mdpi.com/2073-4409/8/1/49), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Cytochrome c Antibody (7H8.2C12) [NB100-56503] - p73 was detected in immersion fixed Hela human cell line using NB100-56503 at 25 ug/ml for 3 hours at room temperature. Cells were stained using the NorthernLights(TM) 557-conjugated Anti-Mouse IgG Secondary Antibody (red; Catalog # NL007) and counterstained with DAPI (blue). Staining was observed in the cytoplasm and mitochondria.

Mouse Monoclonal
Species Human, Mouse, Rat
Applications WB, Simple Western, Flow

61 Publications
Biotinidase/BTD Antibody
NBP2-97093
Western Blot: Biotinidase/BTD Antibody [NBP2-97093] - Anti-Biotinidase/BTD rabbit polyclonal antibody at 1:500 dilution. Lane A: Jurkat Whole Cell Lysate. Lysates/proteins at 30 ug per lane. Secondary Goat Anti-Rabbit IgG H&L (Dylight 800) at 1/10000 dilution. Developed using the Odyssey technique. Performed under reducing conditions. Predicted band size: 61 kDa. Observed band size: 48 kDaImmunohistochemistry-Paraffin: Biotinidase/BTD Antibody [NBP2-97093] - Immunochemical staining of human Biotinidase/BTD in human liver with rabbit polyclonal antibody (1:5000, formalin-fixed paraffin embedded sections).

Rabbit Polyclonal
Species Human
Applications WB, ELISA, IHC

ECHDC1 Antibody
NBP3-12637
Western Blot: ECHDC1 Antibody [NBP3-12637] - Lane A: U-251MG Whole Cell LysateLysates/proteins at 30 ug per lane.SecondaryGoat Anti-Rabbit IgG (H+L)/HRP at 1/10000 dilution.Developed using the ECL technique.Performed under reducing conditions.Predicted band size:34 kDaObserved band size:34 kDa(We are unsure as to the identity of these extra bands.)Immunocytochemistry/Immunofluorescence: ECHDC1 Antibody [NBP3-12637] - Staining of ECHDC1 in HepG2 cells. Cells were fixed with 4% PFA, permeabilzed with 0.3% Triton X-100 in PBS,blocked with 10% serum, and incubated with rabbit anti-Human ECHDC1 polyclonal antibody (dilution ratio 1:200) at 4? overnight. Then cells were stained with the Alexa Fluor®488-conjugated Goat Anti-rabbit IgG secondary antibody (green) and counterstained with DAPI (blue).Positive staining was localized to Cytoplasm.

Rabbit Polyclonal
Species Human
Applications WB, ICC/IF, IHC-P


Related Genes

Holocarboxylase Synthetase Deficiency has been researched against:

Related Pathways

Holocarboxylase Synthetase Deficiency has been linked to:

Related Diseases

Holocarboxylase Synthetase Deficiency has been studied in relation to diseases such as:

Related PTMs

Holocarboxylase Synthetase Deficiency has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Holocarboxylase Synthetase Deficiency is also known as holocarboxylase synthetase deficiency, early-onset biotin-responsive multiple carboxylase deficiency, early-onset combined carboxylase deficiency, infantile multiple carboxylase deficiency, biotin-(propionyl-coa-carboxylase) ligase deficiency (disorder), multiple carboxylase deficiency - neonatal onset (disorder), multiple carboxylase deficiency, neonatal form, biotin holocarboxylase synthetase deficiency, early-onset multiple carboxylase deficiency, multiple carboxylase deficiency, hlcs deficiency.