Gene: CHRDL1

Alternate names for this Gene: CHL|MGC1|MGCN|NRLN1|VOPT|dA141H5.1

Gene Summary: This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described.

Gene is located in Chromosome: X

Location in Chromosome : Xq23

Description of this Gene: chordin like 1

Type of Gene: protein-coding

rs1057516043 in CHRDL1 gene and Congenital keratoglobus PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 22284829 2012 X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

rs5943057 in CHRDL1 gene and Coronary heart disease PMID 21378988 2011 A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.