Disease-gene associations mined from literature

Literature associating MKKS and early infantile epileptic encephalopathy 12

MKKS [ENSP00000246062]

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex 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,  B7Z3W9,  Q9HB66,  Q9NPJ1,  B7Z3W9p ...

Linkouts:  STRING  Pharos  UniProt  OMIM