Aliases for CERS3 Gene
External Ids for CERS3 Gene
Previous HGNC Symbols for CERS3 Gene
Previous GeneCards Identifiers for CERS3 Gene
This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
GeneCards Summary for CERS3 Gene
CERS3 (Ceramide Synthase 3) is a Protein Coding gene. Diseases associated with CERS3 include ichthyosis, congenital, autosomal recessive 9 and ichthyosis-short stature-brachydactyly-microspherophakia syndrome. Among its related pathways are Metabolism and Sphingolipid metabolism. GO annotations related to this gene include sphingosine N-acyltransferase activity. An important paralog of this gene is CERS5.
UniProtKB/Swiss-Prot for CERS3 Gene
Has (dihydro)ceramide synthesis activity with relatively broad substrate specificity, but a preference for C18:0 and other middle- to long-chain fatty acyl-CoAs (By similarity). It is crucial for the synthesis of very long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation.