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C19ORF12 产品

(Chromosome 19 Open Reading Frame 12 (C19ORF12))

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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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C19ORF12 抗体

High quality antibodies with extensive validation data.

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Synonyms and alternative names related to C19ORF12

chromosome 19 open reading frame 12 (C19orf12), NBIA3, NBIA4, SPG43

Protein level used designations for C19ORF12

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