DISEASES

Disease-gene associations mined from literature

Literature associating PTDSS2 and short-rib thoracic dysplasia 6 with or without polydactyly

PTDSS2 [ENSP00000308258]

Phosphatidylserine synthase 2; Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine. PTDSS2 is specific for phosphatatidylethanolamine and does not act on phosphatidylcholine; Belongs to the phosphatidyl serine synthase family.

Synonyms:  PTDSS2,  PTDSS2p,  hPTDSS2,  A0A024RC97,  E9PLE4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM