TMCO1, Official Symbol TMCO1provided by HGNC Official Full Name transmembrane and coiled-coil domains 1provided by HGNC Primary source HGNC:HGNC:18188 See related Ensembl:ENSG00000143183 MIM:614123; AllianceGenome:HGNC:18188 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PCIA3; TMCC4; CFSMR1; HP10122; PNAS-136 Summary 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] Expression Ubiquitous expression in colon (RPKM 19.0), thyroid (RPKM 18.0) and 25 other tissues See more Orthologs mouse all