C19orf12, Official Symbol C19orf12provided by HGNC Official Full Name chromosome 19 open reading frame 12provided by HGNC Primary source HGNC:HGNC:25443 See related Ensembl:ENSG00000131943 MIM:614297; AllianceGenome:HGNC:25443 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MPAN; NBIA3; NBIA4; SPG43 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] Expression Ubiquitous expression in fat (RPKM 24.8), brain (RPKM 6.3) and 23 other tissues See more Orthologs mouse all