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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
Psap - prosaposin
Alias:
SGP-1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一种多功能糖蛋白,在细胞内参与各种鞘糖脂的代谢,或者分泌到血浆、乳汁或脑脊液中。编码的蛋白质经过蛋白酶水解处理,生成四种不同的多肽,即saposin A、B、C或D,它们有助于通过溶酶体的水解酶水解某些鞘糖脂。或者,编码的蛋白质分泌到体液中,表现出神经营养和髓鞘营养活性。编码蛋白质的完全缺乏导致小鼠在新生儿期或一个月内死亡,原因是严重的白细胞营养不良和鞘糖脂积累。可变剪接导致多个转录变异体,它们编码不同的异构体,可能经历类似的处理以生成成熟的saposin。[RefSeq, 2015年9月提供]
Related ID:
NCBI:19156
ENSEMBL:ENSMUSG00000004207
UNIPROT:Q61207
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
19156
10
15
24944 bp
61.42
12
17
Psap Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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