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NEDMISBA
Chr 1ARMFSD2 lysolipid transporter A, lysophospholipid
Also known as: HsMFSD2A, MCPH15, MFSD2, NEDMISBA, NLS1, SLC59A1
The protein encoded by this gene is a transmembrane sodium-dependent lysophosphatidylcholine transporter that is involved in blood-brain barrier establishment and is required for brain growth and function. Mutations cause a neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities inherited in an autosomal recessive pattern. This condition involves progressive neurological deterioration affecting brain development and motor function.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDMISBA?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
NEDMISBA · 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