1. Gene
  2. Hexa - hexosaminidase A Gene

Hexa - hexosaminidase A Gene

Mus musculus

Also known as Hex-1

Gene ID: 15211 | Gene type: protein coding

About Hexa

Summary

This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and Other molecules containing terminal N-acetyl hexosamines. Mice lacking the encoded protein exhibit accumulation of gangliosides in the brain and membranous cytoplasmic bodies in neurons. Certain mutations in the human ortholog of this gene cause Tay-Sachs disease. [provided by RefSeq, Aug 2016]

Hexa Products(2)

mRNA Protein Name
NM_001410424.1 NP_001397353.1 beta-hexosaminidase subunit alpha isoform 2
NM_010421.6 NP_034551.2 beta-hexosaminidase subunit alpha isoform 1 preproprotein
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables beta-N-acetylhexosaminidase activity IDA
IDA: Inferred from direct assay
1914521 MGI
enables beta-N-acetylhexosaminidase activity IGI
IGI: Inferred from genetic interaction
8896570 MGI
enables beta-N-acetylhexosaminidase activity IMP
IMP: Inferred from mutant phenotype
7937929 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within adult walking behavior IMP
IMP: Inferred from mutant phenotype
14972652 MGI
acts upstream of or within cell morphogenesis involved in neuron differentiation IMP
IMP: Inferred from mutant phenotype
14972652 MGI
involved in dermatan sulfate catabolic process IGI
IGI: Inferred from genetic interaction
11707436 MGI
acts upstream of or within ganglioside catabolic process IMP
IMP: Inferred from mutant phenotype
7937929 MGI
acts upstream of or within glycosaminoglycan metabolic process IGI
IGI: Inferred from genetic interaction
8896570 MGI
involved in glycosaminoglycan metabolic process IMP
IMP: Inferred from mutant phenotype
11707436 MGI
involved in hyaluronan catabolic process IMP
IMP: Inferred from mutant phenotype
22451654 MGI
acts upstream of or within lipid storage IMP
IMP: Inferred from mutant phenotype
9223328 MGI
acts upstream of or within locomotory behavior IGI
IGI: Inferred from genetic interaction
8896570 MGI
acts upstream of or within lysosome organization IGI
IGI: Inferred from genetic interaction
8896570 MGI
acts upstream of or within lysosome organization IMP
IMP: Inferred from mutant phenotype
7937929 MGI
acts upstream of or within maintenance of location in cell IMP
IMP: Inferred from mutant phenotype
9223328 MGI
acts upstream of or within myelination IGI
IGI: Inferred from genetic interaction
9184660 MGI
acts upstream of or within neuromuscular process controlling balance IGI
IGI: Inferred from genetic interaction
8896570 MGI
acts upstream of or within neuromuscular process controlling posture IMP
IMP: Inferred from mutant phenotype
14972652 MGI
acts upstream of or within sensory perception of sound IGI
IGI: Inferred from genetic interaction
8896570 MGI
acts upstream of or within sexual reproduction IMP
IMP: Inferred from mutant phenotype
9645704 MGI
acts upstream of or within skeletal system development IGI
IGI: Inferred from genetic interaction
8896570 MGI
Cellular Component GO Annotation Evidence Reference Source
is active in lysosome IDA
IDA: Inferred from direct assay
9645704 MGI
located in lysosome IDA
IDA: Inferred from direct assay
9645704 MGI
is active in lysosome IMP
IMP: Inferred from mutant phenotype
22451654 MGI
located in membrane IDA
IDA: Inferred from direct assay
11854359 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

beta-hexosaminidase subunit alpha

N-acetyl-beta-glucosaminidase subunit alpha

beta-N-acetylhexosaminidase subunit alpha

hexosaminidase subunit A

Orthologs Information

Species Symbol Source ID
Homo sapiens Hexa NCBI NCBI:3073