Hexa - hexosaminidase A Gene
Also Known as Hex-1
Species: Mus musculus
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 |
| Molecular Function GO Annotation | Evidence | Verweise | 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 |
| Cellular Component GO Annotation | Evidence | Verweise | 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 |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
beta-hexosaminidase subunit alpha |
|
|