CERS3

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]

Description

Ceramide synthase 3

Tissue specificity

Group enriched (esophagus, lymphoid tissue, skin , testis, vagina)

Subcell location

Nucleoplasm

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)

Chromosome

15 (100400395 - 100544995)

Ensembl ID

ENSG00000154227  (ver. 103.38)

Orthologs

Mouse Cers3: ENSMUSG00000030510

UniProt

Q8IU89

neXtProt

NX_Q8IU89

Human splice variants
Mouse splice variants

Protein structure