Gene: GLDN

Alternate names for this Gene: CLOM|COLM|CRG-L2|CRGL2|LCCS11|UNC-112|UNC-122

Gene Summary: This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.2

Description of this Gene: gliomedin

Type of Gene: protein-coding

rs750803388 in GLDN gene and Arthrogryposis PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs2470180 in GLDN gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs750803388 in GLDN gene and Early severe fetal akinesia sequence PMID 31680123 2020 The genomic and clinical landscape of fetal akinesia.

rs12148477 in GLDN gene and Follicle stimulating hormone measurement PMID 24049095 2013 Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.

rs764239923 in GLDN gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 11 PMID 27616481 2016 Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

rs17704365 in GLDN gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.