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中文人类
ELOVL4 - ELOVL Fatty Acid Elongase 4
Alias:
ADMD
CT118
ISQMR
SCA34
STGD2
STGD3
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这个基因编码一个膜结合蛋白，是ELO家族的一员，参与脂肪酸的生物合成。与所编码蛋白在视网膜的光感受器细胞中的表达一致，这个基因的突变和小删除与Stargardt样黄斑营养不良（STGD3）和常染色体显性Stargardt样黄斑营养不良（ADMD），也称为常染色体显性萎缩性黄斑变性有关。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ELOVL4 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
