Description
Product Characteristics:
Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play 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.
Subcellular location: Cytoplasm
Synonyms: Bardet Biedl syndrome 6 protein, Bardet-Biedl syndrome 6 protein, BBS6, HMCS, KMS, McKusick Kaufman syndrome, McKusick Kaufman/Bardet Biedl syndromes putative chaperonin, McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin, Mkks, MKKS_HUMAN, MKS.
Target Information: This gene encodes a protein which shares sequence similarity with other members of the chaperonin family. The encoded protein may have a role in protein folding, processing and assembly. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]