MKKS 抗体

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].