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C19ORF12 - chromosome 19 open reading frame 12
- Synonym(s) : DKFZP762D096, membrane protein-associated neurodegeneration, MGC10922, MPAN, NBIA4, neurodegeneration with brain iron accumulation 4
- Previous symbols and names : SPG43, spastic paraplegia 43 (autosomal recessive)
- Type : gene with protein product
- Chromosomal location : 19q12
- OMIM: 614297
- HGNC: 25443
- UniProtKB: Q9NSK7
- Genatlas: C19orf12
- GenCC: C19orf12
- Ensembl: ENSG00000131943
- IUPHAR-DB: -
- Reactome: -
- LOVD: C19ORF12
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive spastic paraplegia type 43
ORPHA:320370 
- Disease-causing germline mutation(s) in Mitochondrial membrane protein-associated neurodegeneration
ORPHA:289560
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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