CRELD1 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 CRELD1 gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
OMIM-Description for CRELD1
Epidermal growth factor (EGF)-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. CRELD1 is the founding member of a family of matricellular proteins.
Cysteine-rich with EGF-like domain protein 1 is a protein that in humans is encoded by the CRELD1 gene.
Cysteine-rich with EGF-like domain protein 1 Short name=CRELD1
Belongs to the CRELD family. Contains 2 EGF-like domains. Contains 2 FU (furin-like) repeats.
Membrane; Multi-pass membrane protein (Potential).
Highly expressed in fetal lung, liver, kidney, adult heart, brain and skeletal muscle. Weakly expressed in placenta, fetal brain, and adult lung, liver, kidney and pancreas.
Involvement in disease
Atrioventricular septal defect 2 (AVSD2) [MIM:606217]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.