DISEASES

Disease-gene associations mined from literature

Literature associating RSG1 and autosomal recessive chronic granulomatous disease cytochrome b-positive type II

RSG1 [ENSP00000364749]

REM2- and Rab-like small GTPase 1; Potential effector of the planar cell polarity signaling pathway. Plays a role in targeted membrane trafficking most probably at the level of vesicle fusion with membranes. Involved in cilium biogenesis by regulating the transport of cargo proteins to the basal body and to the apical tips of cilia. More generally involved in exocytosis in secretory cells (By similarity).

Synonyms:  RSG1,  RSG1p,  hRSG1,  Q9BU20,  C1orf89 ...

Linkouts:  STRING  Pharos  UniProt