TMCO1 cDNA Clone – Transmembrane and Coiled-Coil Domains 1 (Human)

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. [provided by RefSeq, Jan 2012]

TMCO1: Defects in TMCO1 are the cause of craniofacial dysmorphism skeletal anomalies and mental retardation syndrome (CFSMR). A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies. Belongs to the TMCO1 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 1q22-q25

Cellular Component: endoplasmic reticulum; integral to endoplasmic reticulum membrane

Molecular Function: calcium channel activity

Biological Process: endoplasmic reticulum calcium ion homeostasis; ER overload response

Disease: Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome