CRELD1, Official Symbol CRELD1provided by HGNC Official Full Name cysteine rich with EGF like domains 1provided by HGNC Primary source HGNC:HGNC:14630 See related Ensembl:ENSG00000163703 MIM:607170; AllianceGenome:HGNC:14630 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AVSD2; CIRRIN 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.[provided by RefSeq, Apr 2010] Expression Ubiquitous expression in thyroid (RPKM 17.8), heart (RPKM 15.1) and 25 other tissues See more Orthologs mouse all