RecName: Full=Calcium load-activated calcium channel; Short=CLAC chann - Protein

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Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature. [Eur J Med Genet. 2023]
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.
Abdelrazek IM, Holling T, Harms FL, Alawi M, Omar T, Abdalla E, Kutsche K. Eur J Med Genet. 2023 Mar; 66(3):104715. Epub 2023 Jan 25.
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia. [Am J Med Genet A. 2019]
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.
Sharkia R, Zalan A, Jabareen-Masri A, Hengel H, Schöls L, Kessel A, Azem A, Mahajnah M. Am J Med Genet A. 2019 Jul; 179(7):1338-1345. Epub 2019 May 18.
SNP located in an AluJb repeat downstream of TMCO1, rs4657473, is protective for POAG in African Americans. [Br J Ophthalmol. 2019]
SNP located in an AluJb repeat downstream of TMCO1, rs4657473, is protective for POAG in African Americans.
Verkuil L, Danford I, Pistilli M, Collins DW, Gudiseva HV, Trachtman BT, He J, Rathi S, Haider N, Ying GS, et al. Br J Ophthalmol. 2019 Oct; 103(10):1530-1536. Epub 2019 Mar 12.

RefSeq genomic sequence
See the genomic reference sequence for the TMCO1 gene (NG_032004.1).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the TMCO1 gene.

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Q9UM00 [Domain Mapping of Disease Mut...]
Q9UM00
Domain Mapping of Disease Mutations

RecName: Full=Calcium load-activated calcium channel; Short=CLAC channel; AltNam...
RecName: Full=Calcium load-activated calcium channel; Short=CLAC channel; AltName: Full=GEL complex subunit TMCO1; AltName: Full=Transmembrane and coiled-coil domain-containing protein 1; AltName: Full=Transmembrane and coiled-coil domains protein 4; AltName: Full=Xenogeneic cross-immune protein PCIA3
gi|1613836554|sp|Q9UM00.2|TMCO1_HUM

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