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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
KRT6B - Keratin 6B
Alias:
K6B
PC2
PC4
CK6B
CK-6B
KRTL1
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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。II型角蛋白包括在简单和分层上皮组织分化过程中以异源角蛋白链对形式表达的基本或中性蛋白质。已经鉴定出多达六种的这种II型角蛋白(KRT6);这些基因的多样性归因于连续的基因复制事件。这些基因在舌头的丝状乳头、口腔黏膜和食管的分层上皮衬里、毛囊的外根鞘以及腺上皮中与家族成员KRT16和/或KRT17一起表达。这些基因的突变与先天性厚甲症有关。II型角蛋白聚集在染色体12q12-q13的区域。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3854
ENSEMBL:ENSG00000185479
HGNC:6444
UNIPROT:P04259
OMIM:148042
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3854
1
9
5496 bp
60.07
107
2
14
8
KRT6B 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
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Name
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Status
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Link
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