Synonyms:AVSD2, CIRRIN, CRELD1, ENTREZ:78987, HGNC:14630, MIM:607170, NM_001031717, NM_001077415, NM_001374316, NM_001374317, NM_001374318, NM_001374319, NM_001374320, NM_015513, NP_001026887, NP_001070883, NP_001361245, NP_001361246, NP_001361247, NP_001361248, NP_001361249, NP_056328, NR_164475, NR_164476, NR_164477, XM_011534108, XP_011532410, XR_002959584, cysteine rich with EGF like domains 1
Omim:OMIM:607170
Id:0b19fc8d-840f-564e-8cce-bd7d567eb6d8
Hgnc:HGNC:14630
Description:CRELD disulfide isomerase 1
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]