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Gene: HEXB (hexosaminidase subunit beta) Homo sapiens
Symbol: HEXB
Name: hexosaminidase subunit beta
Description: Exhibits acetylglucosaminyltransferase activity; protein heterodimerization activity; and protein homodimerization activity. Predicted to be involved in glycosaminoglycan catabolic process; glycosphingolipid metabolic process; and neutrophil degranulation. Localizes to the azurophil granule. Implicated in Sandhoff disease and spinal muscular atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-hexosaminidase beta-subunit; beta-hexosaminidase subunit beta; beta-N-acetylhexosaminidase subunit beta; cervical cancer proto-oncogene 7 protein; ENC-1AS; epididymis luminal protein 248; epididymis secretory protein Li 111; HCC-7; HEL-248; HEL-S-111; hexosaminidase B (beta polypeptide); hexosaminidase subunit B; N-acetyl-beta-glucosaminidase subunit beta
Mus musculus (house mouse) : Hexb (hexosaminidase B)  MGI  Alliance
Rattus norvegicus (Norway rat) : Hexb (hexosaminidase subunit beta)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Hexb (hexosaminidase subunit beta)
Pan paniscus (bonobo/pygmy chimpanzee) : HEXB (hexosaminidase subunit beta)
Canis lupus familiaris (dog) : HEXB (hexosaminidase subunit beta)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Hexb (hexosaminidase subunit beta)
Sus scrofa (pig) : HEXB (hexosaminidase subunit beta)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38574,640,023 - 74,721,288 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37573,935,547 - 74,017,113 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36574,016,767 - 74,052,869 (+)NCBINCBI36hg18NCBI36
Build 34574,016,766 - 74,052,869NCBI
Celera569,875,759 - 69,911,869 (+)NCBI
Cytogenetic Map5q13.3NCBI
HuRef569,185,979 - 69,222,054 (+)NCBIHuRef
CHM1_1573,368,412 - 73,449,974 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on HEXB
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1316898
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.