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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
KRT75 - Keratin 75
Alias:
K75
PFB
K6HF
KB18
CK-75
hK6hf
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是II型角蛋白家族的成员,位于染色体12的长臂上。I型和II型角蛋白异聚形成细胞质中的中间大小纤维,存在于上皮细胞的细胞质中。这个基因在毛囊的附属层、上部生殖基质区域和毛干的中髓中表达。编码的蛋白质在毛发和指甲形成中起着重要作用。这个基因的变异与毛发疾病假性须疮(PFB)和松驰生发期毛发综合征(LAHS)有关。[RefSeq,2008年10月提供]
Related ID:
NCBI:9119
ENSEMBL:ENSG00000170454
HGNC:24431
UNIPROT:O95678
OMIM:609025
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9119
1
9
10302 bp
59.56
36
2
4
9
KRT75 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
Tissue-specific RNA expression
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References Literature
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No Data Found!
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