TMCO1

Chr 1AR

transmembrane and coiled-coil domains 1

Also known as: CFSMR1, HP10122, PCIA3, PNAS-136, TMCC4

NCBI Gene: 54499 ENSG00000143183 UniProt: Q9UM00 OMIM: 614123

The TMCO1 protein functions as an endoplasmic reticulum calcium-selective channel that maintains ER calcium homeostasis and serves as a component of the multi-pass translocon complex for membrane protein insertion. Biallelic mutations cause craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development with autosomal recessive inheritance. This gene shows extremely strong constraint against loss-of-function variants (pLI ~1), indicating that heterozygous loss-of-function is likely incompatible with normal development.

OMIM ResearchSummary from OMIM, UniProt

This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. 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]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.361 OMIM phenotype

Clinical Summary— TMCO1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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