Literature associating CERS3 and spastic quadriplegia
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 ...