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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
Cps1 - carbamoyl-phosphate synthetase 1
Alias:
CPS
D1Ucla3
4732433M03Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个定位在内质网内的蛋白质。这个编码的蛋白质在尿素循环中起作用,通过催化第一步,将氨和碳酸氢盐转化为羧甲基磷酸盐。随后,羧甲基磷酸盐被转化为尿素,通过肾脏排出。编码的酶的缺乏导致血液中氨的积累。高浓度的氨对中枢神经系统有毒性作用,导致神经疾病。[RefSeq,2013年10月提供]
Related ID:
NCBI:227231
ENSEMBL:ENSMUSG00000025991
UNIPROT:Q8C196
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
227231
3
38
119133 bp
164.62
5
11
Cps1 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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