CERS3
Function
Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very- and ultra-long-chain fatty acyl-CoA (chain length greater than C22) (PubMed:17977534, PubMed:22038835, PubMed:26887952). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (PubMed:17977534, PubMed:22038835, PubMed:26887952). It is crucial for the synthesis of ultra-long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation (PubMed:23754960).
Involvement in disease
Ichthyosis, 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Lipid metabolism; sphingolipid metabolism.
Tissue Specificity
Expressed in the epidermis, where it localizes at the interface between the stratum granulosum and the stratum corneum (at protein level).
Cellular localization
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
Alternative names
LASS3, CERS3, Ceramide synthase 3, CerS3, Dihydroceramide synthase 3, LAG1 longevity assurance homolog 3, Sphingosine N-acyltransferase CERS3, Ultra-long-chain ceramide synthase CERS3, Very-long-chain ceramide synthase CERS3