C19ORF12
Chr 19ARADchromosome 19 open reading frame 12
Also known as: MPAN, NBIA3, NBIA4, SPG43
This gene encodes a small transmembrane protein of unknown function. Mutations cause neurodegeneration with brain iron accumulation-4 (NBIA4) and spastic paraplegia 43, inherited in an autosomal recessive pattern. The mechanism of pathogenicity remains unclear given the unknown protein function.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C19ORF12 · 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 →External Resources
Links to major genomics databases and tools