Gene Symbol | TMCO1 |
Entrez Gene ID | 54499 |
Full Name | transmembrane and coiled-coil domains 1 |
Synonyms | HP10122,PCIA3,PNAS-136,TMCC4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3) |