CRELD1

CRELD1 (Cysteine Rich With EGF Like Domains 1) is a Protein Coding gene. Diseases associated with CRELD1 include Atrioventricular Septal Defect 2 and Partial Atrioventricular Canal. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CRELD2.

Cysteine Rich With EGF Like Domains 1

Protein disulfide isomerase (By similarity).

Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity).

Cardiac septum development Source: BHF-UCL
Endocardial cushion development Source: BHF-UCL

Membrane

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.

Extracellular: 30-362
Helical: 363-383
Cytoplasmic: 384
Helical: 385-405
Extracellular: 406-420