C19orf12 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human C19orf12 wild-type allele is located in the vicinity of 19q12 and is approximately 17 kb in length. This allele, which encodes protein C19orf12, may be involved in mitochondrial calcium ion homeostasis and cellular stress responses. Nonsense mutations in exon 3 of the gene are associated with neurodegeneration with brain iron accumulation 4 and a missense mutation may be associated with autosomal recessive spastic paraplegia 43.

**Synonyms:** - Chromosome 19 Open Reading Frame 12 wt Allele - DKFZP762D096 - MGC10922 - MPAN - NBIA3 - NBIA4 - Neurodegeneration with Brain Iron Accumulation 4 Gene - SPG43 - Spastic Paraplegia 43 (Autosomal Recessive) Gene