Gene: CRELD1

Alternate names for this Gene: AVSD2|CIRRIN

Gene Summary: This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: cysteine rich with EGF like domains 1

Type of Gene: protein-coding

rs121912626 in CRELD1 gene and ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 PMID 12632326 2003 Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

PMID 15857420 2005 Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).

rs7627326 in CRELD1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.