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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
KRTAP9-2 - Keratin Associated Protein 9-2
Alias:
KAP9.2
KRTAP9.2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这种蛋白质是角蛋白关联蛋白质(KAP)家族的成员。KAP蛋白质形成角蛋白中间丝的基质,有助于头发纤维的结构。KAP家族成员似乎具有独特的、家族特异性的氨基端和羧基端区域,并根据氨基酸组成分为三个多基因家族:高硫、超高硫和高酪氨酸/甘氨酸KAPs。这种蛋白质是超高硫KAP家族的成员,基因位于17q12-q21的KAP簇中。[由RefSeq,2008年7月提供]
Related ID:
NCBI:83899
ENSEMBL:ENSG00000239886
HGNC:16926
UNIPROT:Q9BYQ4
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
83899
1
1
1005 bp
18.29
15
--
8
2
KRTAP9-2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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