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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
KRT33B - Keratin 33B
Alias:
K33B
HA3II
Ha-3II
KRTHA3A
KRTHA3B
hHa3-II
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码角蛋白基因家族的成员。这个基因是多个I型毛发角蛋白基因之一,这些基因聚集在染色体17q12-q21的一个区域,并且具有相同的转录方向。作为一个I型毛发角蛋白,编码的蛋白质是一个酸性蛋白质,与II型角蛋白异二聚化以形成毛发和指甲。这个蛋白质有两个异构体,由两个单独的基因,角蛋白33A和角蛋白33B编码。[由RefSeq提供,2012年5月]
Related ID:
NCBI:3884
ENSEMBL:ENSG00000131738
HGNC:6451
UNIPROT:Q14525
OMIM:602762
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3884
1
7
6316 bp
46.21
27
--
3
3
KRT33B Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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