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NEDMSC
Chr 7ARVPS50 subunit of EARP/GARPII complex
Also known as: CCDC132, NEDMSC, VPS54L
The NEDMSC protein enables SNARE binding activity and functions in endocytic recycling as part of the EARP complex located in recycling endosomes. Biallelic mutations cause a neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, inherited in an autosomal recessive pattern. This condition affects the nervous system and liver, with onset in the neonatal period.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDMSC?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
NEDMSC · 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 NEDMSC
External Resources
Links to major genomics databases and tools