HEXA

GENE INFORMATION

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Gene name

HEXA

Synonyms

Description

Hexosaminidase A (alpha polypeptide) (HGNC Symbol)

Entrez gene summary

This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]

Chromosome

15

Cytoband

q23

Chromosome location (bp)

72340919 - 72376476

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000213614 (version 78.38)

Entrez gene

3073

UniProt

P06865 (UniProt - Evidence at protein level)

neXtProt

NX_P06865

Antibodypedia

HEXA antibodies
 

PROTEIN VIEW

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HEXA-001
 
HEXA-007
 
HEXA-012
 
HEXA-016
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HEXA-001 ENSP00000268097
ENST00000268097
P06865
Show all »
Show » Show » 529 60.7 Yes 0
HEXA-007 ENSP00000478217
ENST00000567213
Show » 119 13.3 Yes 0
HEXA-012 ENSP00000455114
ENST00000566304
H3BP20
Show all »
Show » Show » 540 62 Yes 0
HEXA-016 ENSP00000456489
ENST00000567159
H3BS10
Show all »
Show » Show » 509 58.4 Yes 0