Entity Details

Primary name KDSR
Entity type gene
Source Source Link

Details

PrimaryID2531
RefseqGeneNG_028249
SymbolKDSR
Name3-ketodihydrosphingosine reductase
Chromosome18
Location18q21.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKDSR_HUMAN

GO terms

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GOName
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006666 3-keto-sphinganine metabolic process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030148 sphingolipid biosynthetic process
GO:0047560 3-dehydrosphinganine reductase activity

Diseases

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Disease IDSourceNameDescription
617526 OMIMErythrokeratodermia variabilis et progressiva 4 (EKVP4)A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. The disease is caused by variants affecting the gene represented in this entry.