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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
VPS13D - Vacuolar Protein Sorting 13 Homolog D
Alias:
SCA24
SCAR4
SCASI
BLTP5D
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码属于 vacuolar-protein-sorting-13 家族的蛋白质。在酵母中,vacuolar-protein-sorting-13 蛋白质参与跨高尔基体网络和前溶酶体之间的膜蛋白转运。虽然这个基因可能存在几种转录变体,但到目前为止,只有两种全长的性质被描述。这两种代表了这个基因的主要变体,并编码不同的同源异型体。[由 RefSeq 提供,2008 年 7 月]
Related ID:
NCBI:55187
ENSEMBL:ENSG00000048707
HGNC:23595
UNIPROT:Q5THJ4
OMIM:608877
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55187
2
70
282018 bp
491.92
989
2
6
16
VPS13D 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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