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This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described.
Gene Name: | transmembrane and coiled-coil domains 1 |
Synonyms: | TMCO1, HP10122, PCIA3, RP11-466F5.7, TMCC4, PNAS-136, Putative membrane protein |
Target Sequences: | AB020980 BAA86974.1 Q9UM00 |
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