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mkks

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Official Full Name
McKusick-Kaufman syndrome
Background
This gene encodes 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.
Synonyms
MKKS; McKusick-Kaufman syndrome; BBS6; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Bardet Biedl syndrome 6 protein; HMCS; KMS; McKusick Kaufman syndrome; McKusick Kaufman/Bardet Biedl syndromes putative chaperonin; MKS; bardet-Biedl syndrome 6 protein; McKusick-Kaufman syndrome protein; zgc:55608; Bardet-Biedl syndrome 6