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Gene: HEXB (hexosaminidase subunit beta) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on HEXB
Alliance Gene
NCBI 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



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