CRELD1 gene

cysteine rich with EGF like domains 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Atrioventricular septal defect 2

From UniProt:

Atrioventricular septal defect 2 (AVSD2): A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. [MIM:606217]

Cytogenetic Location: 3p25.3, which is the short (p) arm of chromosome 3 at position 25.3

Molecular Location: base pairs 9,933,788 to 9,945,413 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p25.3, which is the short (p) arm of chromosome 3 at position 25.3
  • AVSD2
  • CIRRIN