DISEASES

Disease-gene associations mined from literature

Literature associating CERS3 and spastic quadriplegia

CERS3 [ENSP00000284382]

Ceramide synthase 3; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward very- long (C22:0-C24:0) and ultra long chain (more than C26:0) as acyl donor . It is crucial for the synthesis of ultra long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal. differentiation . ECO:0000269|PubMed:22038835, ECO:0000269|PubMed:23754960,

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

Linkouts:  STRING  Pharos  UniProt