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C19orf12

chromosome 19 open reading frame 12

Synonyms:
NBIA3, NBIA4, SPG43
Species:
Human C19orf12 (83636)
UniProtKB ID:
Q9NSK7, B3KQ16, Q0D2Q0, Q6P4C5, Q9BSL7
Gene ID:
  • Human(83636) 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]

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