C113603Level 4
HJV wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human HJV wild-type allele is located in the vicinity of 1q21.1 and is approximately 19 kb in length. This allele, which encodes hemojuvelin protein, is involved in both bone morphogenetic protein signaling and iron metabolism. Mutation of the gene is associated with hemochromatosis type 2A.
**Synonyms:** - HFE2 - HFE2 wt Allele - HFE2A - Hemochromatosis Type 2 (Juvenile) Gene - Hemojuvelin BMP Co-Receptor wt Allele - JH - RGMC
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