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Tay-sachs Disease: Disease Bioinformatics

Tay-Sachs disease is a rare inherited disorder that progressively destroys neurons in the brain and spinal cord which typically begins during infancy. Tay-Sachs disease is caused by a mutation in the HEXA gene and it is inherited in an autosomal recessive pattern. Tay-Sachs disease is also called Gangliosidosis (GM2) type 1 or Hexosaminidase A deficiency and only 1 in 300 people is a carrier for Tay-Sachs disease. There is no cure for Tay-Sachs disease, however, treatment includes targeting and controlling some of the symptoms - such as providing anticonvulsants to control seizures and proper nutrition and hydration and other comfort measures. Age of death for infants who contract Tay-Sachs disease in typically between 2 and 4 years. Tay-Sachs disease is rare in the general population and the genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds.

Top Research Reagents

We have 2445 products for the study of Tay-sachs Disease that can be applied to Chromatin Immunoprecipitation, Flow Cytometry, Immunocytochemistry/ Immunofluorescence, Immunohistochemistry, Western Blot from our catalog of antibodies and ELISA kits.

Arylsulfatase A/ARSA Antibody
NBP1-00154
Western Blot: Arylsulfatase A/ARSA Antibody [NBP1-00154] - Western blot analysis of Mouse testes lysate (A) + peptide (B) with antibody at 1 ug/mL and Rat testes lysate (C) + peptide (D) with antibody at 0.3 ug/mL, 35ug protein in RIPA buffer. Detected by chemiluminescence.Immunocytochemistry/Immunofluorescence: Arylsulfatase A/ARSA Antibody [NBP1-00154] - Immunofluorescence analysis of paraformaldehyde fixed HeLa cells, permeabilized with 0.15% Triton. Primary incubation 1hr (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL), showing Golgi apparatus staining. The nuclear stain is DAPI (blue). Negative control: Unimmunized goat IgG (10 ug/mL) followed by Alexa Fluor 488 secondary antibody (2 ug/mL).

Goat Polyclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC/IF

1 Publication
Aromatase Antibody
NB100-1596
Western Blot: Aromatase Antibody [NB100-1596] - Expression of the cytochrome P450 aromatase in the ovary of control (C; open bar; n = 6) and hypothyroid (Hypo; solid bar; n = 6) rabbits. Representative immunoblot showing the expression of aromatase. Image collected and cropped by CiteAb from the following publication (https://www.hindawi.com/journals/bmri/2017/3795950/), licensed under a CC-BY license.Immunocytochemistry/Immunofluorescence: Aromatase Antibody [NB100-1596] - U2OS cells were fixed in 4% paraformaldehyde for 10 minutes and permeabilized in 0.05% Triton X-100 in PBS for 5 minutes. The cells were incubated with anti-Aromatase Antibody NB100-1596 at 2 ug/ml overnight at 4C and detected with an anti-rabbit Dylight 488 (Green) at a 1:1000 dilution for 60 minutes. Nuclei were counterstained with DAPI (Blue). Cells were imaged using a 100X objective and digitally deconvolved.

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

16 Publications
CD20 Antibody (AISB12) - BSA Free
NBP1-43435
Western Blot: MS4A1/CD20 Antibody (AISB12) [NBP1-43435] - Immunoblot of Balb/c thymus (lane 1) and A20 (lane 2) cell lysates with Anti-Mouse CD20 Purified.Flow Cytometry: MS4A1/CD20 Antibody (AISB12) [NBP1-43435] - Staining of BALB/c splenocytes with Anti-Mouse CD19 Alexa Fluor (R) 647 and 1.0 micrograms conjugated anti-Mouse CD20 Purified followed by Anti-Rat IgG PE. Quadrant lines represent Rat IgG2a isotype control staining levels and cells in the lymphocyte gate were used for analysis.

Rat Monoclonal
Species Human, Mouse
Applications WB, Flow

3 Publications
SF-1/NR5A1/Steroidogenic Factor 1 Antibody
NBP1-52823
Western Blot: SF-1/NR5A1/Steroidogenic Factor 1 Antibody [NBP1-52823] - Titration: 0.2-1 ug/ml, Positive Control: THP-1 cell lysate.Immunohistochemistry-Paraffin: SF-1/NR5A1/Steroidogenic Factor 1 Antibody [NBP1-52823] - Human adrenal tissue at an antibody concentration of 4-8ug/ml.

Rabbit Polyclonal
Species Human, Mouse
Applications WB, Simple Western, ICC/IF

4 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
HEXDC Antibody
NBP1-83574
Western Blot: HEXDC Antibody [NBP1-83574] - Analysis in control (vector only transfected HEK293T lysate) and HEXDC over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).Immunocytochemistry/Immunofluorescence: HEXDC Antibody [NBP1-83574] - Immunofluorescent staining of human cell line U-2 OS shows localization to nucleoli fibrillar center & mitochondria.

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

DMRT1 Antibody
NBP1-84071
Immunohistochemistry-Paraffin: DMRT1 Antibody [NBP1-84071] - Staining in human testis and fallopian tube tissues using anti-DMRT1 antibody. Corresponding DMRT1 RNA-seq data are presented for the same tissues.Western Blot: DMRT1 Antibody [NBP1-84071] - Analysis in control (vector only transfected HEK293T lysate) and DMRT1 over-expression lysate (Co-expressed with a C-terminal myc-DDK tag (3.1 kDa) in mammalian HEK293T cells).

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

4 Publications
ETFA Antibody
NBP1-84854
Immunohistochemistry-Paraffin: ETFA Antibody [NBP1-84854] - Staining of human colon, kidney, liver and pancreas using Anti-ETFA antibody NBP1-84854 (A) shows similar protein distribution across tissues to independent antibody NBP1-84856 (B).Western Blot: ETFA Antibody [NBP1-84854] - Analysis in U2OS cells transfected with control siRNA, target specific siRNA probe #1 and #2, using anti-ETFA antibody. Remaining relative intensity is presented.

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

BBS9 Antibody
NBP1-88927
Immunohistochemistry-Paraffin: BBS9 Antibody [NBP1-88927] - Staining of human cerebellum shows strong cytoplasmic positivity in purkinje cells.

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

3 Publications
RanGAP1 Antibody (OTI1B4)
NBP2-02623
Western Blot: RanGAP1 Antibody (1B4) [NBP2-02623] Analysis of extracts (35ug) from 9 different cell lines by using anti-RanGAP1 monoclonal antibody.Immunocytochemistry/Immunofluorescence: RanGAP1 Antibody (1B4) [NBP2-02623] - Staining of COS7 cells transiently transfected by pCMV6-ENTRY RanGAP1.

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

1 Publication
Sialin/SLC17A5 Antibody
NBP2-20383
Western Blot: SLC17A5 Antibody [NBP2-20383] - Sample (30 ug of whole cell lysate) A: Jurkat 10% SDS PAGE gel, diluted at 1:1000.Immunocytochemistry/Immunofluorescence: SLC17A5 Antibody [NBP2-20383] - Sample: HepG2 cells were fixed in -20C 100% MeOH for 5 min. Green: SLC17A5 protein stained by SLC17A5 antibody diluted at 1:500. Blue: Hoechst 33343 staining.

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

Hexosaminidase A/HEXA Antibody (714729)
MAB6237
Western blot shows lysates of HepG2 human hepatocellular carcinoma cell line and human liver tissue. PVDF membrane was probed with 2 µg/mL of Mouse Anti-Human Hexosaminidase A/HEXA Monoclonal Antibody (Catalog # MAB6237) followed by HRP-conjugated Anti-Mouse IgG Secondary Antibody (Catalog # <a class=Hexosaminidase A/HEXA was detected in immersion fixed paraffin-embedded sections of human brain (hypothalamus) using Mouse Anti-Human Hexosaminidase A/HEXA Monoclonal Antibody (Catalog # MAB6237) at 15 µg/mL overnight at 4 °C. Before incubation with the primary antibody, tissue was subjected to heat-induced epitope retrieval using Antigen Retrieval Reagent-Basic (Catalog # <a class=

Mouse Monoclonal
Species Human
Applications WB, IHC

SOX9 Antibody [Unconjugated]
AF3075
Western blot shows lysates of HeLa human cervical epithelial carcinoma cell line, KATO-III human gastric carcinoma cell line, COLO 205 human colorectal adenocarcinoma cell line, and Hep3B human hepatocellular carcinoma cell line. PVDF membrane was probed with 0.5 µg/mL of Goat Anti-Human SOX9 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3075) followed by HRP-conjugated Anti-Goat IgG Secondary Antibody (<a class=SOX9 was detected in immersion fixed HEK293 human embryonic kidney cell line using 10 µg/mL Human SOX9 Antigen Affinity-purified Polyclonal Antibody (Catalog # AF3075) for 3 hours at room temperature. Cells were stained with the NorthernLights™ 557-conjugated Anti-Goat IgG Secondary Antibody (red; <a class=

Goat Polyclonal
Species Human
Applications WB, Simple Western, ICC

     2 Reviews

154 Publications
beta-Galactosidase-1/GLB1 Antibody (OTI1C9)
NBP2-45731
Western Blot: beta-Galactosidase-1/GLB1 Antibody (OTI1C9) [NBP2-45731] - Analysis of extracts (35ug) from 9 different cell lines by using anti-GLB1 monoclonal antibody (HepG2: human; HeLa: human; SVT2: mouse; A549: human; COS7: monkey; Jurkat: human; MDCK: canine; PC12: rat; MCF7: human).Immunohistochemistry: beta-Galactosidase-1/GLB1 Antibody (1C9) [NBP2-45731] - Analysis of Adenocarcinoma of Human ovary tissue. (Heat-induced epitope retrieval by 10mM citric buffer, pH6.0, 120C for 3min)

Mouse Monoclonal
Species Human, Canine, Monkey
Applications WB, IHC, IHC-P

6 Publications
PISD Antibody (OTI4G5)
NBP2-46421
Western Blot: PISD Antibody (4G5) [NBP2-46421] - Analysis of HEK293T cells were transfected with the pCMV6-ENTRY control (Left lane) or pCMV6-ENTRY PISD .Immunohistochemistry: PISD Antibody (4G5) [NBP2-46421] - Analysis of Adenocarcinoma of Human ovary tissue.(Heat-induced epitope retrieval by 1mM EDTA in 10mM Tris buffer (pH8.5) at 120C for 3 min)

Mouse monoclonal
Species Human, Mouse, Rat
Applications WB, IHC, IHC-P

HEXB Antibody
NBP2-49211
Immunohistochemistry-Paraffin: HEXB Antibody [NBP2-49211] - Staining of human prostate shows moderate to strong granular cytoplasmic positivity in glandular cells.Immunohistochemistry-Paraffin: HEXB Antibody [NBP2-49211] - Staining of human epididymis shows granular cytoplasmic positivity in glandular cells.

Rabbit Polyclonal
Species Human
Applications IHC, IHC-P

HHEX Antibody (2018B) [Unconjugated]
MAB83771
Western blot shows lysates of HepG2 human hepatocellular carcinoma cell line, BaF3 mouse pro-B cell line, and H4-II-E-C3 rat hepatoma cell line. PVDF membrane was probed with 1 µg/mL of Rabbit Anti-Human/Mouse/Rat HHEX Monoclonal Antibody (Catalog # MAB83771) followed by HRP-conjugated Anti-Rabbit IgG Secondary Antibody (Catalog # <a class=HHEX was detected in immersion fixed K562 human chronic myelogenous leukemia cell line using Rabbit Anti-Human/Mouse/Rat HHEX Polyclonal Antibody (Catalog # MAB83771) at 3 µg/mL for 3 hours at room temperature. Cells were stained using the NorthernLights™ 557-conjugated Anti-Rabbit IgG Secondary Antibody (red; Catalog # <a class=

Rabbit Monoclonal
Species Human, Mouse, Rat
Applications WB, Flow, ICC

6 Publications
SPANXB1 Antibody
H00728695-B01P
Western Blot: SPANXB1 Antibody [H00728695-B01P] - Analysis of SPANXB1 expression in transfected 293T cell line by SPANXB1 polyclonal antibody. Lane 1: SPANXB1 transfected lysate(11.33 KDa). Lane 2: Non-transfected lysate.Immunocytochemistry/Immunofluorescence: SPANXB1 Antibody [H00728695-B01P] - Analysis of purified antibody to SPANXB1 on Hs 181.Tes cell. (antibody concentration 10 ug/ml)

Mouse Polyclonal
Species Human
Applications WB, ICC/IF, IP


Related Genes

Tay-sachs Disease has been researched against:

Related Pathways

Tay-sachs Disease has been linked to:

Related Diseases

Tay-sachs Disease has been studied in relation to diseases such as:

Related PTMs

Tay-sachs Disease has been studied in relation to posttranslational modifications (PTMs) including:

Alternate Names

Tay-sachs Disease is also known as tay-sachs disease, hexosaminidase a deficiency, tsd, hexa deficiency, tay sachs disease, hex a deficiency, type 1 hexosaminidase a-deficiency, acute infantile gm2 gangliosidosis, lipidosis, ganglioside, infantile, infantile gm>2< gangliosidosis, tay-sachs disease (disorder), gangliosidoses, gm2, disease, tay-sachs, sphingolipidoses, malnutrition, lipoidosis.