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Target intelligence / Profile preview
Protein disulfide isomerase CRELD1 (CRELD1)
- Target
- CRELD1
- Molecular classification
- Enzyme (protein disulfide isomerase), Accessory protein for ligand-gated ion channel biogenesis, Other (EGF-like domain containing protein)
01
Overview
Protein disulfide isomerase CRELD1 is a highly conserved cysteine-rich protein containing EGF-like domains, localized to the endoplasmic reticulum membrane, where it catalyzes the formation and rearrangement of disulfide bonds during protein folding. CRELD1 is critical for the assembly and surface expression of acetylcholine receptors, influencing synaptic transmission and muscle responsiveness. Its activity is essential for proper cardiac development, as loss-of-function mutations cause congenital heart defects such as atrioventricular septal defect. CRELD1's enzymatic activity and protein-protein interactions make it a promising therapeutic target for diseases involving receptor misfolding or impaired biogenesis
- Other names
- Cysteine-rich with EGF-like domain protein 1CIRRINAVSD2JELANSUNQ188/PRO214protein disulfide isomerase CRELD1cysteine rich with EGF like domains 1
02
Mechanism of action
Hypothetical mechanisms for small molecule modulators would involve inhibition or enhancement of CRELD1's disulfide isomerase activity, impacting AChR biogenesis and possibly folding of other substrate proteins
03
Biological functions
Protein folding (via disulfide isomerase activity)Biogenesis and membrane localization of acetylcholine receptorsPotential cell adhesion moleculeCalcium ion binding
04
Disease associations
Cardiovascular disease (notably atrioventricular septal defect)Neurodevelopmental disorder (Jeffries-Lakhani syndrome, hypotonia, seizures)
05
Safety considerations
Therapeutic modulation of CRELD1 could potentially impact neuronal signaling and cardiac development, presenting concerns for cardiac defects and altered neurotransmitter receptor biogenesisGiven its key role in protein folding, broad inhibition could cause off-target effects related to general protein maturation pathways
06
Interacting drugs
No specific drugs have been clinically validated or reported to interact directly with CRELD1; current data is limited to early-stage small molecule modulator identification via AI-driven virtual screening
07
Biomarkers
Mutations in CRELD1 serve as biomarkers for atrioventricular septal defect and related syndromes
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