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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
UQCC1 - Ubiquinol-cytochrome C Reductase Complex Assembly Factor 1
Alias:
BFZB
CBP3
UQCC
C20orf44
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个跨膜蛋白,其结构与小鼠基础成纤维细胞生长因子抑制的ZIC结合蛋白相似。在小鼠中,这个蛋白可能参与成纤维细胞生长因子的生长调控。在人类中,这个基因的多态性与人类身高和骨关节炎的变化有关。可变剪接导致多个转录子变异体。[由RefSeq提供,2010年5月]
Related ID:
NCBI:55245
ENSEMBL:ENSG00000101019
HGNC:15891
UNIPROT:Q9NVA1
OMIM:611797
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55245
9
10
109396 bp
34.60
18
--
2
8
UQCC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
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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References Literature
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