tectonic-like complex member MKS1 isoform 1 [Homo sapiens]

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Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. [Am J Med Genet A. 2016]
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
Irfanullah, Khan S, Ullah I, Nasir A, Meijer CA, Laurense-Bik M, den Dunnen JT, Ruivenkamp CA, Hoffer MJ, Santen GW, et al. Am J Med Genet A. 2016 Dec; 170(12):3289-3293. Epub 2016 Aug 29.
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. [PLoS One. 2014]
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.
Xing DJ, Zhang HX, Huang N, Wu KC, Huang XF, Huang F, Tong Y, Pang CP, Qu J, Jin ZB. PLoS One. 2014; 9(3):e90599. Epub 2014 Mar 7.
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. [Hum Mutat. 2007]
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, et al. Hum Mutat. 2007 Jun; 28(6):638-9.

RefSeq genomic sequence
See the genomic reference sequence for the MKS1 gene (NG_013032.1).
RefSeq mRNA
See reference mRNA sequence for the MKS1 gene (NM_017777.4).
RefSeq protein isoforms
See 19 reference sequence protein isoforms for the MKS1 gene.

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NP_060247 [Domain Mapping of Disease Mut...]
NP_060247
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents
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reagent reviews
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inositol-tetrakisphosphate 1-kinase isoform a [Homo sapiens]
inositol-tetrakisphosphate 1-kinase isoform a [Homo sapiens]
gi|21359894|ref|NP_055031.2|

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