- Catalog number
- A00692
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- HEXA, hexosaminidase A (alpha polypeptide), is an enzyme that in humans is encoded by the HEXA gene. Hexosaminidase A and the cofactor GM2 activator protein catalyze the degradation of the GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines. The HEXA gene encodes the alpha subunit of hexosaminidase A , a lysosomal enzyme involved in the breakdown of gangliosides. The HEXA gene is mapped on 15q23. Even though the alpha and beta subunits of hexosaminidase A can both cleave GalNAc residues, only the alpha subunit is able to hydrolyze GM2 gangliosides. The alpha subunit contains a key residue, Arg-424, which is essential for binding the N-acetyl-neuramanic residue of GM2 gangliosides. Chimeric constructs were expressed in HeLa cells and selected constructs were produced in the baculovirus expression system to determine their ability to degrade GM2 ganglioside in the presence of GM2 activator protein. Their results allowed them to define 2 noncontiguous sequences in the alpha subunit (amino acids 1-191 and 403-529) which, when substituted into analogous positions in the beta subunit, conferred activity against the sulfated substrate.
- Synonyms
- Early growth response protein 1
- Gene Name
- Hexa
- Gene ID
- 300757
- UniProt
- Q641X3
- Host
- Rabbit
- Reactivity
- Rat
- Cross Reactivity
- No cross-reactivity with other proteins.
- Immunogen
- E.coli-derived rat HEXA recombinant protein (Position: Q28-T528) .
- Clonality
- Polyclonal
- Tissue Specificity
- Detected in neutrophils (at protein level) .
- Applications
- WB, ELISA
- Field of Research
- Cancer, Domain Families, Epigenetics and Nuclear Signaling, Oncoproteins/Suppressors, Transcription, Tumor Suppressors, Zinc Finger
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Add 0.2ml of distilled water will yield a concentration of 500ug/ml.
- Function
- Transcriptional regulator (PubMed:20121949) . Recognizes and binds to the DNA sequence 5'-GCG (T/G) GGGCG-3' (EGR-site) in the promoter region of target genes (By similarity) . Binds double- stranded target DNA, irrespective of the cytosine methylation status (PubMed:25258363, PubMed:25999311) . Regulates the transcription of numerous target genes, and thereby plays an important role in regulating the response to growth factors, DNA damage, and ischemia. Plays a role in the regulation of cell survival, proliferation and cell death. Activates expression of p53/TP53 and TGFB1, and thereby helps prevent tumor formation. Required for normal progress through mitosis and normal proliferation of hepatocytes after partial hepatectomy. Mediates responses to ischemia and hypoxia; regulates the expression of proteins such as IL1B and CXCL2 that are involved in inflammatory processes and development of tissue damage after ischemia. Regulates biosynthesis of luteinizing hormone (LHB) in the pituitary (By similarity) .
- References & Citations
- 1. Akli, S., Chomel, J.-C., Lacorte, J.-M., Bachner, L., Poenaru, A., Poenaru, L. Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. Hum. Molec. Genet. 2: 61-67, 1993. 2. Beutler, E., Kuhl, W., Comings, D. Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease) . Am. J. Hum. Genet. 27: 628-638, 1975. 3. Chern, C. J., Beutler, E., Kuhl, W., Gilbert, F., Mellman, W. J., Croce, C. M. Characterization of heteropolymeric hexosaminidase A in human x mouse hybrid cells. Proc. Nat. Acad. Sci. 73: 3637-3640, 1976.
- Storage Conditions
- Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.
- Observed Molecular Weight
- 54 kDa
- Gene Name Synonym
- Early growth response 1
- Subcellular Location
- Nucleus.
- Isotype
- Rabbit IgG
- Contents
- Each vial contains 4mg Trehalose, 0.9mg NaCl, 0.2mg Na2HPO4, 0.01mg NaN3.
