Aliases for TMCO1 Gene
External Ids for TMCO1 Gene
Previous HGNC Symbols for TMCO1 Gene
Previous GeneCards Identifiers for TMCO1 Gene
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]
GeneCards Summary for TMCO1 Gene
TMCO1 (Transmembrane And Coiled-Coil Domains 1) is a Protein Coding gene. Diseases associated with TMCO1 include Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome and Sprengel Deformity.
UniProtKB/Swiss-Prot for TMCO1 Gene
Calcium-selective channel required to prevent calcium stores from overfilling, thereby playing a key role in calcium homeostasis (PubMed:27212239). In response to endoplasmic reticulum overloading, assembles into a homotetramer, forming a functional calcium-selective channel, regulating the calcium content in endoplasmic reticulum store (PubMed:27212239).