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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
STX16 - Syntaxin 16
Alias:
SYN16
SYN-16
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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SNAP受体家族的一员,这些蛋白质位于细胞膜上,作为V-SNAP受体(囊泡SNAP受体)的靶标,允许特定的突触囊泡停靠和融合。在染色体20的区域中,这个基因所在的位置的微缺失与假甲状旁腺功能不足型Ib有关。已经在这个基因中发现多种转录变异体。这个基因和相邻的下游氨基肽酶样1(NPEPL1)基因之间也存在读穿转录。[RefSeq,2011年3月提供]
Related ID:
NCBI:8675
ENSEMBL:ENSG00000124222
HGNC:11431
UNIPROT:O14662
OMIM:603666
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8675
5
9
28244 bp
37.03
186
1
5
9
STX16 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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