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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
Pnpla1 - patatin-like phospholipase domain containing 1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活omega-羟基神经酰胺转酰酶活性。皮肤表皮的结构成分。参与皮肤屏障的建立;角质细胞分化;和omega-羟基神经酰胺生物合成过程。预测在细胞质;脂滴;和膜中活性。在表皮中表达。用于研究常染色体隐性遗传性鱼鳞病10。这个基因的人类同源物与常染色体隐性遗传性鱼鳞病10有关。与人类PNPLA1(patatin样磷脂酶域含1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:433091
ENSEMBL:ENSMUSG00000043286
UNIPROT:Q3V1D5
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
433091
4
10
32021 bp
65.17
6
4
Pnpla1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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