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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
TSPAN32 - Tetraspanin 32
Alias:
ART1
PHMX
PHEMX
TSSC6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是四跨膜蛋白超家族的一员,位于染色体11p15.5的印记基因域,这是一个重要的肿瘤抑制基因区。这个区域的变异与Beckwith-Wiedemann综合症、Wilms瘤、横纹肌肉瘤、肾上腺皮质癌和肺癌、卵巢癌和乳腺癌有关。这个基因位于几个印记基因中,但是,这个基因以及肿瘤抑制的亚染色体可转移片段4,逃脱了印记。这个基因可能在涉及这个区域的恶性肿瘤和疾病中发挥作用,并且它还参与造血细胞功能。已经描述了可替代剪接的转录本变异体,但是它们的生物学有效性尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10077
ENSEMBL:ENSG00000064201
HGNC:13410
UNIPROT:Q96QS1
OMIM:603853
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10077
20
10
16192 bp
34.63
26
--
5
5
TSPAN32 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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