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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Asah1 - N-acylsphingosine amidohydrolase 1
Alias:
AC
Asah
2310081N20Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码酸性鞘氨醇酶,这是一种在鞘氨醇代谢中起核心作用的酶。编码的蛋白质经过蛋白水解加工,生成由α和β亚基组成的异源二聚酶,催化鞘脂鞘氨醇水解成鞘碱和游离脂肪酸。这个基因的纯合子缺失导致小鼠胚胎致死,而杂合子动物表现出渐进性脂质储存疾病表型。[RefSeq,2015年10月提供]
Related ID:
NCBI:11886
ENSEMBL:ENSMUSG00000031591
UNIPROT:Q9WV54
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11886
12
14
56999 bp
44.67
10
14
Asah1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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