Description
Product Characteristics: Bardet Biedl syndrome 6 protein antibody, Bardet-Biedl syndrome 6 protein antibody, BBS6 antibody, HMCS antibody, KMS antibody, McKusick Kaufman syndrome antibody, McKusick Kaufman/Bardet Biedl syndromes putative chaperonin antibody, McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin antibody, Mkks antibody, MKKS_HUMAN antibody, MKS antibody
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]