RecName: Full=B9 domain-containing protein 1; AltName: Full=MKS1-relat - Protein

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B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. [Hum Mol Genet. 2011]
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, et al. Hum Mol Genet. 2011 Jul 1; 20(13):2524-34. Epub 2011 Apr 14.
Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins. [Mol Biol Cell. 2020]
Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.
Okazaki M, Kobayashi T, Chiba S, Takei R, Liang L, Nakayama K, Katoh Y. Mol Biol Cell. 2020 Sep 15; 31(20):2259-2268. Epub 2020 Jul 29.
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. [Orphanet J Rare Dis. 2014]
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, et al. Orphanet J Rare Dis. 2014 May 5; 9:72. Epub 2014 May 5.

RefSeq genomic sequence
See the genomic reference sequence for the B9D1 gene (NG_031885.2).
RefSeq protein isoforms
See 25 reference sequence protein isoforms for the B9D1 gene.

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Q9UPM9 [Domain Mapping of Disease Mut...]
Q9UPM9
Domain Mapping of Disease Mutations
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