DISEASES

Disease-gene associations mined from literature

Literature associating RAB39B and Noonan syndrome 2

RAB39B [ENSP00000358466]

RAB39B, member RAS oncogene family; Small GTPases Rab involved in autophagy. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission (By similarity); RAB, member RAS oncogene GTPases

Synonyms:  RAB39B,  RAB39Bp,  hRAB39B,  Q96DA2,  Q96DA2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM