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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
MCOLN2 - Mucolipin TRP Cation Channel 2
Alias:
TRPML2
TRP-ML2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
粘液脂酸酶构成一个与瞬时受体电位超家族具有同源性的阳离子通道蛋白家族。在哺乳动物中,粘液脂酸酶家族包括3个成员,MCOLN1(MIM 605248),MCOLN2和MCOLN3(MIM 607400),它们展示了一个共同的6跨膜结构。哺乳动物粘液脂酸酶的同源物存在于果蝇和秀丽隐杆线虫中。人类MCOLN1基因的突变导致粘液脂酸病IV(MIM 262650)(Karacsonyi等人,2007年[PubMed 17662026])。[由OMIM于2009年9月提供]
Related ID:
NCBI:255231
ENSEMBL:ENSG00000153898
HGNC:13357
UNIPROT:Q8IZK6
OMIM:607399
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
255231
8
14
71531 bp
65.94
25
--
5
8
MCOLN2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Interactions
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Name
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References Literature
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