DISEASES

Disease-gene associations mined from literature

Literature associating CERS3 and autosomal recessive congenital ichthyosis

CERS3 [ENSP00000284382]

LAG1 longevity assurance homolog 3; 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; CERS class homeoboxes

Synonyms:  CERS3,  CERS3p,  hCERS3,  H0YMG6,  H0YN05 ...

Linkouts:  STRING  Pharos  UniProt