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中文人类
RETREG1 - Reticulophagy Regulator 1
Alias:
JK1
JK-1
FAM134B
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这个基因编码的蛋白质是一种可能对于痛觉和自主神经节神经元长期生存必需的高尔基体跨膜蛋白。这个基因的突变是导致遗传性感觉和自主神经病类型IIB（HSAN IIB）的原因，这个基因也可能参与血管性痴呆的易感性。这个基因已经观察到了编码多种异构体的可变剪接转录本。[RefSeq,2011年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RETREG1 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
