McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a
protein that in humans is encoded by the MKKSgene.[4][5]
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.[5]
Stone DL, Slavotinek A, Bouffard GG, et al. (2000). "Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome". Nat. Genet. 25 (1): 79–82.
doi:
10.1038/75637.
PMID10802661.
S2CID2868670.
Slavotinek AM, Stone EM, Mykytyn K, et al. (2000). "Mutations in MKKS cause Bardet-Biedl syndrome". Nat. Genet. 26 (1): 15–6.
doi:
10.1038/79116.
PMID10973238.
S2CID62795101.
Katsanis N, Beales PL, Woods MO, et al. (2000). "Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet–Biedl syndrome". Nat. Genet. 26 (1): 67–70.
doi:
10.1038/79201.
PMID10973251.
S2CID20313506.
Kim JC, Ou YY, Badano JL, et al. (2005). "MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis". J. Cell Sci. 118 (Pt 5): 1007–20.
doi:
10.1242/jcs.01676.
PMID15731008.
S2CID26831634.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a
protein that in humans is encoded by the MKKSgene.[4][5]
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.[5]
Stone DL, Slavotinek A, Bouffard GG, et al. (2000). "Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome". Nat. Genet. 25 (1): 79–82.
doi:
10.1038/75637.
PMID10802661.
S2CID2868670.
Slavotinek AM, Stone EM, Mykytyn K, et al. (2000). "Mutations in MKKS cause Bardet-Biedl syndrome". Nat. Genet. 26 (1): 15–6.
doi:
10.1038/79116.
PMID10973238.
S2CID62795101.
Katsanis N, Beales PL, Woods MO, et al. (2000). "Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet–Biedl syndrome". Nat. Genet. 26 (1): 67–70.
doi:
10.1038/79201.
PMID10973251.
S2CID20313506.
Kim JC, Ou YY, Badano JL, et al. (2005). "MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis". J. Cell Sci. 118 (Pt 5): 1007–20.
doi:
10.1242/jcs.01676.
PMID15731008.
S2CID26831634.