C19orf12( Human )

Entrez Gene 83636 Entrez Gene 83636
chromosome 19 open reading frame 12

Alias

MPAN|NBIA3|NBIA4|SPG43

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].

Product Category