DISEASES

Disease-gene associations mined from literature

Literature associating CERS6 and hereditary sensory and autonomic neuropathy type 1

CERS6 [ENSP00000376453]

Ceramide synthase 6; Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) as acyl donor . Can use other acyl donors, but with less efficiency (By similarity). Ceramides generated by CERS6 play a role in inflammatory response (By similarity). Acts as a regulator of metabolism and hepatic lipid accumulation (By similarity). Under high fat diet, palmitoyl- (C16:0-) ceramides generated by CERS6 specifically bind the mitochondrial fission factor MFF, thereby promoting mitochondrial fragmentation and contributing to the development of obesity (By similarity). ECO:0000269|PubMed:17977534, ECO:0000269|PubMed:23530041,

Synonyms:  CERS6,  CERS6p,  hCERS6,  Q6ZMG9,  Q6ZMG9p ...

Linkouts:  STRING  Pharos  UniProt