Literature associating RHEBL1 and acrocapitofemoral dysplasia
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 ...