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TMCO1

Official Full Name
transmembrane and coiled-coil domains 1
Organism
Homo sapiens
GeneID
54499
Background
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]
Synonyms
PCIA3; TMCC4; CFSMR1; HP10122; PNAS-136;

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