Gene Symbol | C19orf12 |
Entrez Gene ID | 83636 |
Full Name | chromosome 19 open reading frame 12 |
Synonyms | MPAN,NBIA3,NBIA4,SPG43 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Neurodegeneration with brain iron accumulation 4, 614298 (3); ?Spastic paraplegia 43, autosomal recessive, 615043 (3) |