DISEASES

Disease-gene associations mined from literature

Literature associating SGSM1 and hereditary spastic paraplegia 57

SGSM1 [ENSP00000383212]

RUN and TBC1 domain-containing protein 2; Interacts with numerous Rab family members, functioning as Rab effector for some, and as GTPase activator for others. Promotes GTP hydrolysis by RAB34 and RAB36. Probably functions as GTPase effector with RAB9A and RAB9B; does not stimulate GTP hydrolysis with RAB9A and RAB9B; Belongs to the RUTBC family.

Synonyms:  SGSM1,  SGSM1p,  hSGSM1,  Q2NKQ1,  KIAA1941 ...

Linkouts:  STRING  Pharos  UniProt  OMIM