DISEASES

Disease-gene associations mined from literature

Literature associating RABEP1 and Smith-McCort dysplasia

RABEP1 [ENSP00000445408]

Rab GTPase-binding effector protein 1; Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusion and membrane trafficking of recycling endosomes. Involved in KCNH1 channels trafficking to and from the cell membrane . Stimulates RABGEF1 mediated nucleotide exchange on RAB5A. Mediates the traffic of PKD1:PKD2 complex from the endoplasmic reticulum through the Golgi to the cilium (By similarity). ECO:0000269|PubMed:10698684, ECO:0000269|PubMed:11452015, ECO:0000269|PubMed:12773381, ECO:0000269|PubMed:22841712,; Belongs to the rabaptin family.

Synonyms:  RABEP1,  RABEP1p,  hRABEP1,  A0A087WZZ3,  I3L2B8 ...

Linkouts:  STRING  Pharos  UniProt