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中文人类
RDH12 - Retinol Dehydrogenase 12
Alias:
RP53
LCA13
SDR7C2
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这个基因编码的蛋白质是一种NADPH依赖的视网膜还原酶，其最高活性针对9-顺式和全反式视黄醇。编码的酶还在短链醛的代谢中发挥作用，但不展示类固醇脱氢酶活性。这个基因的缺陷是导致Leber先天性夜盲症13型和视网膜色素变性53型的原因。[RefSeq，2015年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RDH12 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
