MKS1
MIM.249000 17q22-q23
Meckel syndrome type 1 is caused by mutation in a gene encoding a component of the flagellar apparatus basal body proteome (MKS1) (MIM.609883).
See also
ciliary proteins
basal body proteins
References
Kyttala M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestila M. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006 Feb;38(2):155-7. PMID: #16415886#
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