Gene: LOC100129878

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.1

Description of this Gene: uncharacterized LOC100129878

Type of Gene: ncRNA

Gene: DYM

Alternate names for this Gene: DMC|SMC

Gene Summary: This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.1

Description of this Gene: dymeclin

Type of Gene: protein-coding

rs2282546 in LOC100129878;DYM gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.