Full name: chromosome 19 open reading frame 12

Gene type: protein coding

RefSeq status: VALIDATED

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

Gene size: 16904bp

Exon count: 7