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中文人类
GJC2 - Gap Junction Protein Gamma 2
Alias:
Cx47
HLD2
GJA12
SPG44
CX46.6
LMPH1C
LMPHM3
PMLDAR
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这个基因编码一个间隙连接蛋白。间隙连接蛋白是同原连接蛋白大家族的成员，包括4个跨膜结构，2个细胞外结构，和3个细胞质结构域。这个基因在人类中枢髓鞘形成中起关键作用，并参与周围髓鞘形成。这个基因的缺陷是导致常染色体隐性遗传的Pelizaeus-Merzbacher样疾病-1的原因。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GJC2 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
