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中文人类
STXBP5L - Syntaxin Binding Protein 5L
Alias:
LLGL4
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这个基因编码的蛋白质与SNAP-5相似，包含10个N端WD40重复序列，4个可变区WD40重复序列和1个C端R-SNARE结构域。研究小鼠和大鼠的同源蛋白表明，该编码蛋白质可能抑制神经分泌细胞的分泌，并可能对胰岛素的分泌产生负调控作用。这个基因中的错义变异可能是导致一种婴儿起病的神经退行性疾病的病因，这种疾病在两个表亲父母的孩子中被诊断出来。[由RefSeq，2017年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
STXBP5L Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
