Monday 29 September 2003
CRELD1 codes for a cell adhesion molecule previously known as "cirrin". Locus AVSD2 (3p25). CRELD1 is the founding member of a family of matricellular proteins.
Epidermal growth factor-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface.
missense mutations in CRELD1 in
- atrioventricular septal defects (12632326)
- partial atrioventricular septal defect and heterotaxy (dextrocardia, right ventricle aorta with pulmonary atresia, and right aortic arch) (MIM.606217)
Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet. 2003 Apr;72(4):1047-52. PMID: 12632326
Maslen, C.; Babcock, D.; Robinson, S. W.; Bean, L. J. H.; Dooley, K. J.; Willour, V. L.; Sherman, S. L. : CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am. J. Med. Genet. 140A: 2501-2505, 2006.
Pierpont, M. E. M.; Markwald, R. R.; Lin, A. E. : Genetic aspects of atrioventricular septal defects. Am. J. Med. Genet. 97: 289-296, 2000. PubMed ID : 11376440