CRELD1
Function
Protein disulfide isomerase (By similarity). Promotes the localization of acetylcholine receptors (AChRs) to the plasma membrane (By similarity).
Involvement in disease
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.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Jeffries-Lakhani neurodevelopmental syndrome
JELANS
An autosomal recessive neurodevelopmental disorder characterized by developmental delay, early-onset epilepsy, and hypotonia apparent from infancy. Clinical features include motor delay, speech delay, and impaired intellectual development. About half of patients are non-ambulatory and/or non-verbal. Some patients have cardiac rhythm disturbances, and some experience recurrent infections. Premature death due to cardiac arrhythmia or epilepsy may occur.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CRELD family.
Tissue Specificity
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.
Cellular localization
- Membrane
- Multi-pass membrane protein
Alternative names
CIRRIN, UNQ188/PRO214, CRELD1, Protein disulfide isomerase CRELD1, Cysteine-rich with EGF-like domain protein 1