DISEASES

Disease-gene associations mined from literature

Literature associating SNX10 and autosomal recessive osteopetrosis 8

SNX10 [ENSP00000395474]

Sorting nexin 10; Probable phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Plays a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium. Required for the localization to the cilium of V-ATPase subunit ATP6V1D and ATP6V0D1, and RAB8A. Involved in osteoclast differentiation and therefore bone resorption.

Synonyms:  SNX10,  SNX10p,  hSNX10,  A0A024RA70,  B4DJM0 ...

Linkouts:  STRING  Pharos  UniProt