Search results for abx028718

McKusick-Kaufman/Bardet-Biedl Syndromes Putative Chaperonin (MKKS) Antibody, Abbexa, abx028718

MKKS is a protein with sequence similarity to the chaperonin family. The encoded protein may have a role in protein processing in limb, cardiac and reproductive system development. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6 and McKusick-Kaufman syndrome. Two transcript variants encoding the same protein have been identified for this gene.