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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
人类
CPT1C - Carnitine Palmitoyltransferase 1C
Alias:
CATL1
CPT1P
CPTIC
SPG73
CPT1-B
CPTI-B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肉碱/胆碱乙酰转移酶家族的一员。编码的蛋白质调节β氧化和长链脂肪酸进入线粒体的运输,可能参与进食行为和全身能量稳态的调节。已经观察到这个基因的替代剪接转录变异体编码多种蛋白质异构体。[RefSeq,2010年12月提供]
Related ID:
NCBI:126129
ENSEMBL:ENSG00000169169
HGNC:18540
UNIPROT:Q8TCG5
OMIM:608846
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
126129
23
20
23070 bp
90.99
227
1
8
11
CPT1C Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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