| Gene Symbol | CRELD1 |
| Entrez Gene ID | 78987 |
| Full Name | cysteine rich with EGF like domains 1 |
| Synonyms | AVSD2,CIRRIN |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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]. |
| Disorder MIM: | |
| Disorder Html: | {Atrioventricular septal defect, susceptibility to, 2}, 606217 (3); Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3) |
User Manual