DISEASES

Disease-gene associations mined from literature

Literature associating DPH1 and Sotos syndrome

DPH1 [ENSP00000263083]

S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1; Required for the first step in the synthesis of diphthamide, a post-translational modification of histidine which occurs in translation elongation factor 2 (EEF2). When overexpressed, suppresses colony formation ability and growth rate of ovarian cancer cells. Acts also as a tumor suppressor in lung and breast cancers (By similarity). Plays a role in embryonic growth, organogenesis and postnatal survival (By similarity); Minor histocompatibility antigens

Synonyms:  DPH1,  DPH1p,  hDPH1,  B3KQW7,  DPH1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM