SDR9C7 (short chain dehydrogenase/reductase family 9C member 7)

2013-08-01  

Identity

HGNC
LOCATION
12q13.3
LOCUSID
ALIAS
ARCI13,RDHS,SDR-O,SDRO

Other Information

Locus ID:

NCBI: 121214
MIM: 609769
HGNC: 29958
Ensembl: ENSG00000170426

Variants:

dbSNP: 121214
ClinVar: 121214
TCGA: ENSG00000170426
COSMIC: SDR9C7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170426ENST00000293502Q8NEX9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902

References

Pubmed IDYearTitleCitations
281731232016Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.8
283697352017Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family.1
289065512018Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.1

Citation

Dessen P

SDR9C7 (short chain dehydrogenase/reductase family 9C member 7)

Atlas Genet Cytogenet Oncol Haematol. 2013-08-01

Online version: http://atlasgeneticsoncology.org/gene/53488/sdr9c7