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)

72635775 - 72668817

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000213614 (version 75.37)

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-002
 
HEXA-003
 
HEXA-004
 
HEXA-005
 
HEXA-011
 
HEXA-012
 
HEXA-014
 
HEXA-016
 
HEXA-201
 
HEXA-202
 
 » 
 
 
 
 

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-002 ENSP00000456346
ENST00000563762
H3BRP6
Show all »
Show » 88 10.2 Yes 0
HEXA-003 ENSP00000455545
ENST00000567411
H3BQ04
Show all »
Show » 143 16.3 Yes 0
HEXA-004 ENSP00000457037
ENST00000566672
H3BT62
Show all »
Show » 143 16.1 Yes 0
HEXA-005 ENSP00000457521
ENST00000567027
B4DKE7
Show all »
Show » Show » 318 36.2 No 0
HEXA-011 ENSP00000457125
ENST00000569410
H3BTD4
Show all »
Show » Show » 373 42.7 Yes 0
HEXA-012 ENSP00000455114
ENST00000566304
H3BP20
Show all »
Show » Show » 540 62 Yes 0
HEXA-014 ENSP00000458128
ENST00000568260
Show » 128 14.3 Yes 0
HEXA-016 ENSP00000456489
ENST00000567159
H3BS10
Show all »
Show » Show » 509 58.4 Yes 0
HEXA-201 ENSP00000416187
ENST00000429918
E9PGL4
Show all »
Show » Show » 301 34.6 No 0
HEXA-202 ENSP00000398026
ENST00000457859
B4DKE7
Show all »
Show » Show » 168 19.3 No 0