GeneID: 328


Common Name: DHFRP2 Type: Pseudogene
Chromosome: 6 (NC_000006.12) Locus: NG_001113.6 (DHFRP2)
HUGO Symbol: DHFRP2 Full Name: dihydrofolate reductase pseudogene 2
Exons: 1 Introns: N/A

The dihydrofolate reductase (DHFR) gene family comprises multiple intronless pseudogenes, including DHFR pseudogene 2 (DHFRP2). The functional DHFR gene [HGNC: 2861] is located on chromosome 5 and encodes an enzyme that catalyzes the reduction of dihydrofolate to tetrahydrofolate, the active form of folate. This reaction is critical as it is the only source of tetrahydrofolate in the cell and, as such, it plays an important role in human health. The pseudogenes are regarded as nonfunctional and their intronless nature suggests that they arose through reintegration of an mRNA intermediate. A large scale cDNA sequencing project showed that the DHFRP4 pseudogene on chromosome 3 was actually expressed and functional. Genetic variance in DHFRP2 pseudogene associated with haematological parameters (e.g., haemoglobin levels).

Synonyms: N/A


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Publications / Origin

  1. McEntee G, Minguzzi S, O'Brien K, Ben Larbi N, Loscher C, O'Fágáin C, Parle-McDermott A, The former annotated human pseudogene dihydrofolate reductase-like 1 (DHFRL1) is expressed and functional., Proc. Natl. Acad. Sci. U.S.A., 108(37), 15157-62, 2011 PubMed
  2. Kim YK, Oh JH, Kim YJ, Hwang MY, Moon S, Low SK, Takahashi A, Matsuda K, Kubo M, Lee J, Kim BJ, Influence of Genetic Variants in EGF and Other Genes on Hematological Traits in Korean Populations by a Genome-Wide Approach., Biomed Res Int , 2015(0), 914965, 2015 PubMed
Created on 2019-12-06 13:21:27, Last reviewed on (Show full history)

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