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CRELD1 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 Name: | cysteine-rich with EGF-like domains 1 |
Synonyms: | CRELD1, AVSD2, CIRRIN |
Target Sequences: | NM_015513 NP_056328.2 Q96HD1 |
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