Gene: EML3

Alternate names for this Gene: ELP95|EMAP3|EMAP95

Gene Summary:

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: EMAP like 3

Type of Gene: protein-coding

Gene: ROM1

Alternate names for this Gene: ROM|ROSP1|RP7|TSPAN23

Gene Summary: This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: retinal outer segment membrane protein 1

Type of Gene: protein-coding

rs4387351 in EML3;ROM1 gene and Bilirubin measurement PMID 30621171 2019 Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population.

rs4387351 in EML3;ROM1 gene and Metabolic Syndrome X PMID 30621171 2019 Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population.

rs1801144 in EML3;ROM1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.