HFM1

HFM1 is a gene that in humans encodes a protein necessary for homologous recombination of chromosomes.[5] Biallelic mutations in HFM1 cause recessive primary ovarian insufficiency.[5]

HFM1
Identifiers
AliasesHFM1, MER3, POF9, SEC63D1, Si-11, Si-11-6, helicase, ATP-dependent DNA helicase homolog, ATP dependent DNA helicase homolog, helicase for meiosis 1
External IDsOMIM: 615684 MGI: 3036246 HomoloGene: 87103 GeneCards: HFM1
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p22.2Start91,260,766 bp[1]
End91,404,856 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

164045

330149

Ensembl

ENSG00000162669

ENSMUSG00000043410

UniProt

A2PYH4
C9JQ07

D3Z4R1

RefSeq (mRNA)

NM_001017975

NM_001252516
NM_177873

RefSeq (protein)

NP_001017975

NP_001239445
NP_808541

Location (UCSC)Chr 1: 91.26 – 91.4 MbChr 5: 106.84 – 106.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

References

  1. GRCh38: Ensembl release 89: ENSG00000162669 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000043410 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Wang J, Zhang W, Jiang H, Wu BL (March 2014). "Mutations in HFM1 in recessive primary ovarian insufficiency". The New England Journal of Medicine. 370 (10): 972–4. doi:10.1056/NEJMc1310150. PMID 24597873.
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