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NEDDSBA
Chr 2ARpost-GPI attachment to proteins inositol deacylase 1
Also known as: Bst1, ISPD3024, MRT42, NEDDSBA, SPG67
The encoded protein catalyzes inositol deacylation of glycosylphosphatidylinositol (GPI) early in the GPI biosynthetic pathway and is required for producing GPI that can attach to proteins and transport GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Mutations cause autosomal recessive neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities. This condition affects multiple systems including the central nervous system and craniofacial development.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDDSBA?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
NEDDSBA · 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 publications found for NEDDSBA
External Resources
Links to major genomics databases and tools