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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
KRT82 - Keratin 82
Alias:
HB2
Hb-2
KRTHB2
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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。作为一种II型头发角蛋白,它是一种与I型角蛋白异二聚化以形成头发和指甲的基本蛋白质。II型头发角蛋白聚集在染色体12q13的一个区域,并根据结构相似性分为两个不同的亚家族。一个亚家族,包括KRTHB1、KRTHB3和KRTHB6,具有高度相关性。另一个相关性较低的亚家族包括KRTHB2、KRTHB4和KRTHB5。所有头发角蛋白都在毛囊中表达;这种角蛋白似乎是一种特定的头发角质层角蛋白。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3888
ENSEMBL:ENSG00000161850
HGNC:6459
UNIPROT:Q9NSB4
OMIM:601078
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3888
1
9
12405 bp
56.65
33
--
3
2
KRT82 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)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Alphabetical
Cell-specific RNA expression
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Type
Name
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Mutations
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CAS Number
Status
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Link
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References Literature
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