HEXA

GENERAL INFORMATION

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Gene name

HEXA

Gene description

Hexosaminidase A (alpha polypeptide)

Protein class

Candidate cardiovascular disease genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most of the normal tissues displayed moderate cytoplasmic positivity with a granular pattern. Strong staining was observed in lung macrophages, stomach, gall bladder, adrenal gland, prostate and Leydig cells. Pneumocytes, squamous epithelia, skin, glial cells, cerebellum and lymphoid tissues were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA054583
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Prostate



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000268097
 
ENST00000566304
 
ENST00000567159
 
ENST00000567213
 
 
 
 


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