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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
TCHHL1 - Trichohyalin Like 1
Alias:
THHL1
S100A17
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于S100融合型蛋白(SFTP)基因家族,位于染色体1q21上的一个SFTP基因簇中。这个家族的多个成员与复杂皮肤疾病的发育有关。这个基因在进化上是保守的;其表达似乎具有毛发特异性,并且在毛囊的远端内根鞘内空间上受到限制。因此,它可能在毛发形态发生中具有重要作用。[RefSeq,2013年8月提供]
Related ID:
NCBI:126637
ENSEMBL:ENSG00000182898
HGNC:31796
UNIPROT:Q5QJ38
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
126637
1
3
4924 bp
99.28
36
--
3
2
TCHHL1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Name
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References Literature
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