DISEASES

Disease-gene associations mined from literature

Literature associating RHEBL1 and acrocapitofemoral dysplasia

RHEBL1 [ENSP00000301068]

Ras homolog enriched in brain-like protein 1; Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription. Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small GTPase-activating proteins TSC1 and TSC2.

Synonyms:  RHEBL1,  RHEBL1p,  hRHEBL1,  C9JQQ1,  F8W1T5 ...

Linkouts:  STRING  Pharos  UniProt