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中文人类
RDH5 - Retinol Dehydrogenase 5
Alias:
RDH1
9cRDH
SDR9C5
HSD17B9
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这个基因编码一种属于短链脱氢酶/还原酶(SDR)家族的酶。该视黄醇脱氢酶的功能是催化视黄醛醛酸生物合成的最后一步，视黄醛醛酸是视觉色素的通用色基。这个基因的突变导致常染色体隐性遗传性眼底白斑病，这是一种罕见的夜盲症，其特点是锥状细胞和棒状光色素再生延迟。可变剪接导致多个转录变异体。这个基因与相邻的上游BLOC1S1（溶酶体器官生物发生复合物-1，亚基1）基因之间也存在读穿转录。[RefSeq提供，2010年12月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RDH5 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
