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Transmembrane and coiled-coil domains 1

TMCO1, transmembrane and coiled-coil domains 1
This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012] (from NCBI)
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Top mentioned proteins: Transcription Factor DP1, Six1, Six3, GAS7, AGE
Papers on TMCO1
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.
MacGregor et al., Hobart, Australia. In Hum Mol Genet, Jun 2015
Genes found to date associated with IOP and POAG are ABCA1, CAV1/CAV2, GAS7 and TMCO1.
Genetic Variants Associated With Different Risks for High Tension Glaucoma and Normal Tension Glaucoma in a Chinese Population.
Sun et al., Shanghai, China. In Invest Ophthalmol Vis Sci, Apr 2015
A total of 13 previously reported single nucleotide polymorphisms (SNPs) located at four gene regions (TMCO1, CDKN2B-AS1, ATOH7, and SIX1/SIX6) was genotyped.
Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study.
Craig et al., Adelaide, Australia. In Am J Ophthalmol, 2015
The TMCO1 locus was nominally associated (P = .012),
The genetics of POAG in black South Africans: a candidate gene association study.
Ramsay et al., Johannesburg, South Africa. In Sci Rep, 2014
No association with POAG was identified with tagging SNPs in TMCO1, CAV1/CAV2, CYP1B1, COL1A2, COL5A1, CDKN2B/CDKN2BAS-1, SIX1/SIX6 or the chromosome 2p16 regions and there were no associations with CCT or VCDR.
An Updated Review on the Genetics of Primary Open Angle Glaucoma.
Chalam et al., Riyadh, Saudi Arabia. In Int J Mol Sci, 2014
Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) at different loci including CAV1/CAV2, TMCO1, CDKN2B-AS1, CDC7-TGFBR3, SIX1/SIX6, GAS7 and ATOH7 to be associated with POAG and its related quantitative traits (endophenotypes).
DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.
Hauser et al., Durham, United States. In Invest Ophthalmol Vis Sci, 2014
We further limited our investigation to CNVs in known POAG-related genes, including CDKN2B-AS1, TMCO1, SIX1/SIX6, CAV1/CAV2, the LRP12-ZFPM2 region, GAS7, ATOH7, FNDC3B, CYP1B1, MYOC, OPTN, WDR36, SRBD1, TBK1, and GALC.
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Lupski et al., Houston, United States. In Eur J Hum Genet, 2014
Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic dysplasia (CFTD; MIM#213980) in whom we identified a homozygous splice-site mutation in the transmembrane and coiled-coil domains 1 (TMCO1) gene using WES.
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Akarsu et al., Ankara, Turkey. In Am J Med Genet A, 2014
Using combination of homozygosity mapping and whole-exome sequencing, we identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C>T), in the human transmembrane and coiled-coil domains protein 1 (TMCO1) in four out of five families of Turkish origin.
Genome-wide association study and meta-analysis of intraocular pressure.
Li et al., Ann Arbor, United States. In Hum Genet, 2014
Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glaucoma (POAG) at CDKN2B-AS1, CAV1/CAV2, and SIX1/SIX6.
Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.
den Hollander et al., Nijmegen, Netherlands. In Mol Vis, 2013
METHODS: Six variants in CDKN2B-AS1 (rs4977756), CDKN2B (rs1063192), ATOH7 (rs1900004), CAV1 (rs4236601), TMCO1 (rs4656461), and SIX1 (rs10483727) were genotyped using TaqMan assays.
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1.
Vincent et al., Toronto, Canada. In Bmc Med Genet, 2013
In particular, our two-stage strategy found association in both our combined case/control analysis and the family-based analysis on 1q21.2 (closest gene: sphingosine-1-phosphate receptor 1 gene, S1PR1) and on 1q24.1 near the gene TMCO1, and at CSMD1 on 8p23.2, supporting several previous GWAS reports for BD and for schizophrenia.
The genetics of intraocular pressure.
Pasquale et al., Boston, United States. In Semin Ophthalmol, 2013
More recently, genome-wide association studies (GWAS) have shown that common genetic variants in the GAS7 and TMCO1 genomic regions are associated with elevated IOP.
Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.
Allingham et al., Durham, United States. In Invest Ophthalmol Vis Sci, 2012
Our analysis included 57 single nucleotide polymorphisms (SNPs) in five loci previously associated with POAG at the genome-wide level, including CDKN2B-AS1, TMCO1, CAV1/CAV2, chromosome 8q22 intergenic region, and SIX1/SIX6.
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.
Craig et al., Adelaide, Australia. In Invest Ophthalmol Vis Sci, 2012
This study shows a relationship between genetic variation in and around TMCO1 with age at diagnosis of POAG and provides clues to the potential cellular function/s of this gene.
Common genetic determinants of intraocular pressure and primary open-angle glaucoma.
van Duijn et al., Rotterdam, Netherlands. In Plos Genet, 2011
Intraocular pressure (IOP)was significantly associated with rs11656696, located in GAS7 at 17p13.1 and with rs7555523, located in TMCO1 at 1q24.1.These data suggest that we have identified two clinically relevant genes involved in IOP regulation.
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
Craig et al., Adelaide, Australia. In Nat Genet, 2011
We report a genome-wide association study for open-angle glaucoma (OAG) blindness at tnco1 and cdkn2b loci.
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
Wang et al., United States. In Proc Natl Acad Sci U S A, 2010
This report shows a TMCO1 sequence variant being associated with a genetic disorder in humans.
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