Gene Symbol | CRELD1 |
Entrez Gene ID | 78987 |
Full Name | cysteine rich with EGF like domains 1 |
Synonyms | AVSD2,CIRRIN |
General protein information |
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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) |