Gene: TMCO1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: TMCO1

Alternate names for this Gene: HP10122|PCIA3|PNAS-136|TMCC4

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q24.1

Description of this Gene: transmembrane and coiled-coil domains 1

Type of Gene: protein-coding

rs786204789 in TMCO1-AS1;TMCO1 gene and Cerebrofaciothoracic Dysplasia PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

rs7518099 in TMCO1-AS1;TMCO1 gene and Glaucoma PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

rs7518099 in TMCO1-AS1;TMCO1 gene and Physiologic Intraocular Pressure PMID 24002674 2014 While no signal achieved genome-wide significance in individual datasets, a meta-analysis identified significant associations with IOP at TMCO1 (rs7518099-G, p = 8.0 × 10(-8)).

rs7518099 in TMCO1-AS1;TMCO1 gene and Tonometry PMID 24002674 2014 Genome-wide association study and meta-analysis of intraocular pressure.