Entity Details

Primary name CERS3
Entity type gene
Source Source Link

Details

PrimaryID204219
RefseqGeneNG_042826
SymbolCERS3
Nameceramide synthase 3
Chromosome15
Location15q26.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-04-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCERS3_HUMAN

GO terms

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GOName
GO:0003677 DNA binding
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0008544 epidermis development
GO:0016021 integral component of membrane
GO:0016410 N-acyltransferase activity
GO:0030148 sphingolipid biosynthetic process
GO:0030216 keratinocyte differentiation
GO:0046513 ceramide biosynthetic process
GO:0050291 sphingosine N-acyltransferase activity
GO:0070268 cornification

Diseases

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Disease IDSourceNameDescription
615023 OMIMIchthyosis, congenital, autosomal recessive 9 (ARCI9)A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
CERS3PCBD2BioGRID, IntAct32296183 details
CERS3NEU1BioGRID, IntAct32296183 details
CERS3ORMDL3BioGRID, IntAct32296183 details
CERS3SLC39A9BioGRID, IntAct32296183 details
CERS3SLC29A2BioGRID32296183 details
CERS3PTPREBioGRID27432908 details