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NDMSBA
Chr 9ARphospholipase A2 activating protein
Also known as: DOA1, NDMSBA, PLA2P, PLAP
The NDMSBA protein binds ubiquitin and regulates macroautophagy and phospholipase A2 activity. Biallelic mutations cause neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies with autosomal recessive inheritance. The disorder involves both developmental abnormalities and progressive neurological features affecting motor function.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NDMSBA?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NDMSBA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools