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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
KL - Klotho
Alias:
KLA
HFTC3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种与β-葡萄糖苷酶相关的I型膜蛋白。在慢性肾功能衰竭(CRF)患者中,这种蛋白质的生产减少已经被观察到,这可能是CRF中看到的退行性过程(例如动脉硬化、骨质疏松和皮肤萎缩)的根本原因之一。此外,该蛋白质内的突变与衰老和骨丢失有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9365
ENSEMBL:ENSG00000133116
HGNC:6344
UNIPROT:Q9UEF7
OMIM:604824
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9365
4
5
49901 bp
116.18
333
2
19
11
KL Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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