1. Gene
  2. Hexa - hexosaminidase A Gene

Hexa - hexosaminidase A Gene

种属: Mus musculus

同用名: Hex-1

基因 ID: 15211 | 基因类型: protein coding

关于 Hexa

功能概要

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables beta-N-acetylhexosaminidase activity IDA
IDA: 通过直接分析推断
1914521 MGI
enables beta-N-acetylhexosaminidase activity IGI
IGI: 通过遗传相互作用推断
8896570 MGI
enables beta-N-acetylhexosaminidase activity IMP
IMP: 通过突变表型推断
7937929 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within adult walking behavior IMP
IMP: 通过突变表型推断
14972652 MGI
acts upstream of or within cell morphogenesis involved in neuron differentiation IMP
IMP: 通过突变表型推断
14972652 MGI
involved in dermatan sulfate catabolic process IGI
IGI: 通过遗传相互作用推断
11707436 MGI
acts upstream of or within ganglioside catabolic process IMP
IMP: 通过突变表型推断
7937929 MGI
acts upstream of or within glycosaminoglycan metabolic process IGI
IGI: 通过遗传相互作用推断
8896570 MGI
involved in glycosaminoglycan metabolic process IMP
IMP: 通过突变表型推断
11707436 MGI
involved in hyaluronan catabolic process IMP
IMP: 通过突变表型推断
22451654 MGI
acts upstream of or within lipid storage IMP
IMP: 通过突变表型推断
9223328 MGI
acts upstream of or within locomotory behavior IGI
IGI: 通过遗传相互作用推断
8896570 MGI
acts upstream of or within lysosome organization IGI
IGI: 通过遗传相互作用推断
8896570 MGI
acts upstream of or within lysosome organization IMP
IMP: 通过突变表型推断
7937929 MGI
acts upstream of or within maintenance of location in cell IMP
IMP: 通过突变表型推断
9223328 MGI
acts upstream of or within myelination IGI
IGI: 通过遗传相互作用推断
9184660 MGI
acts upstream of or within neuromuscular process controlling balance IGI
IGI: 通过遗传相互作用推断
8896570 MGI
acts upstream of or within neuromuscular process controlling posture IMP
IMP: 通过突变表型推断
14972652 MGI
acts upstream of or within sensory perception of sound IGI
IGI: 通过遗传相互作用推断
8896570 MGI
acts upstream of or within sexual reproduction IMP
IMP: 通过突变表型推断
9645704 MGI
acts upstream of or within skeletal system development IGI
IGI: 通过遗传相互作用推断
8896570 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in lysosome IDA
IDA: 通过直接分析推断
9645704 MGI
located in lysosome IDA
IDA: 通过直接分析推断
9645704 MGI
is active in lysosome IMP
IMP: 通过突变表型推断
22451654 MGI
located in membrane IDA
IDA: 通过直接分析推断
11854359 MGI
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

beta-hexosaminidase subunit alpha

N-acetyl-beta-glucosaminidase subunit alpha

beta-N-acetylhexosaminidase subunit alpha

hexosaminidase subunit A

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Hexa NCBI NCBI:3073