1. Gene
  2. Galc - galactosylceramidase Gene

Galc - galactosylceramidase Gene

种属: Mus musculus

同用名: twi; Gacy; twitcher; 2310068B06Rik; A930008M05Rik

基因 ID: 14420 | 基因类型: protein coding

关于 Galc

功能概要

This gene encodes galactosylceramidase, the lysosomal hydryolase involved in the catabolism of galactosylceramide. Mutations in this gene result in slow growth, tremors and hind leg weakness, collectively termed as the 'twitcher' phenotype. In humans, deficiency of this gene product causes a lysosomal storage disorder known as Krabbe disease. [provided by RefSeq, Dec 2014]

Galc 基因产物(1)

mRNA Protein Name
NM_008079.4 NP_032105.2 galactocerebrosidase precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables galactosylceramidase activity IDA
IDA: 通过直接分析推断
8769874 MGI
enables galactosylceramidase activity IMP
IMP: 通过突变表型推断
11371512 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within galactosylceramide catabolic process IDA
IDA: 通过直接分析推断
11371512 MGI
acts upstream of or within galactosylceramide catabolic process IMP
IMP: 通过突变表型推断
11371512 MGI
involved in galactosylceramide catabolic process IMP
IMP: 通过突变表型推断
8769874 MGI
acts upstream of or within myelination IMP
IMP: 通过突变表型推断
11371512 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

galactocerebrosidase

GALCERase

galactocerebroside beta-galactosidase

galactosylceramide beta-galactosidase

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Galc NCBI NCBI:2581