DISEASES

Disease-gene associations mined from literature

Literature associating BBOX1 and Opitz-GBBB syndrome

BBOX1 [ENSP00000263182]

Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1; Catalyzes the formation of L-carnitine from gamma- butyrobetaine; Belongs to the gamma-BBH/TMLD family.

Synonyms:  BBOX1,  BBOX1p,  hBBOX1,  E9PKC9,  O75936 ...

Linkouts:  STRING  Pharos  UniProt  OMIM