Disease-gene associations mined from literature

Literature associating RIN2 and autosomal recessive cutis laxa type IIA

RIN2 [ENSP00000255006]

Ras and Rab interactor 2; Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP. ; Belongs to the RIN (Ras interaction/interference) family.

Synonyms:  RIN2,  RIN2p,  hRIN2,  E7EPJ1,  Q8WYP3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM