蛋白简介

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.

Gene names and symbols associated with C19ORF12

• chromosome 19 open reading frame 12 (C19orf12) 抗体

• NBIA3 抗体
• NBIA4 抗体
• SPG43 抗体

Protein level used designations for C19ORF12

neurodegeneration with brain iron accumulation 3 , protein C19orf12 , spastic paraplegia 43 (autosomal recessive)