DISEASES

Disease-gene associations mined from literature

Literature associating MKKS and thrombocytopenia-absent radius syndrome

MKKS [ENSP00000246062]

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis . Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia . May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis . ; Belongs to the TCP-1 chaperonin family.

Synonyms:  MKKS,  Q9NPJ1,  Q9NPJ1p,  hQ9NPJ1,  8195 ...

Linkouts:  STRING  Pharos  UniProt  OMIM