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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
KRT16 - Keratin 16
Alias:
K16
PC1
CK16
K1CP
NEPPK
FNEPPK
KRT16A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是角蛋白基因家族的成员。角蛋白是负责上皮细胞结构完整性的中间纤维蛋白,分为角蛋白和毛发角蛋白。大多数I型角蛋白由酸性蛋白质组成,它们以异源角蛋白链对的形式排列,并聚集在染色体17q12-q21的区域。这种角蛋白与角蛋白14在许多上皮组织中共同表达,包括食管、舌头和毛囊。这个基因的突变与1型肥厚性先天性鱼鳞病、非表皮松解性掌跖角化病和单侧掌跖疣有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3868
ENSEMBL:ENSG00000186832
HGNC:6423
UNIPROT:P08779
OMIM:148067
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3868
1
8
2990 bp
51.27
101
3
1
26
KRT16 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
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Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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