calcium load-activated calcium channel isoform a [Homo sapiens]

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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 mRNA
See reference mRNA sequence for the TMCO1 gene (NM_019026.6).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the TMCO1 gene.

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NP_061899 [Domain Mapping of Disease Mut...]
NP_061899
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource

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Protein