CRELD1 Antibody

1. The CRELD1 gene is likely to have a major role in causation of AVSD phenotype in selected DS patients. PMID: 29054759
2. Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients. PMID: 25524324
3. Mutation of the CRELD1 gene increased the risk for atrioventricular septal defect. PMID: 24927998
4. we identified two CRELD1 haplotypes associated with AVSD phenotype among DS and euploid individuals. PMID: 22987595
5. study indicates that deleterious CRELD1 missense mutations are specifically associated with AVSD and are not correlated with other aspects of the heterotaxy phenotype PMID: 22740159
6. SNP c.985 C>T of CRELD1 is involved in causing congenital heart disease in patients of Mysore, South India. PMID: 21413875
7. CRELD1 is likely to be an AVSD-susceptibility gene and CRELD1 mutations may increase the risk of developing a heart defect rather than being a direct causative mutation PMID: 21080147
8. CRELD1 could partly change the localization of RTN3 from the endoplasmic reticulum to the plasma membrane and modulate the apoptotic activity of RTN3 through binding with it. PMID: 19521671
9. Missense mutations in this protein are associated with cardiac atrioventricular septal defects. PMID: 12632326
10. Mutations in CRELD1,are infrequently found in patients with congenital cardiac septal defects PMID: 18076106

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HGNC: 14630

OMIM: 606217

KEGG: hsa:78987

UniGene: Hs.9383