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GeneQ18046531· pop 5· linked from 7 articles

Also known as BLAP75, C9orf76, FAAP75, RecQ mediated genome instability 1

RecQ-mediated genome instability protein 1 is a protein that in humans is encoded by the RMI1 gene.

Gene data

RMI1
Name
RecQ mediated genome instability 1
Type
protein-coding
Aliases
BLAP75, C9orf76, FAAP75

RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008]

via MyGene.info

Wikidata facts

Image
Protein RMI1 PDB 3MXN.png
Show 5 more facts
HomoloGene ID
41601
genomic end
86618985
genomic start
83980798
cytogenetic location
9q21.32
Sources (4)

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~2 min read

Article

5 sections
Contents
  • Genetic disorders
  • Function
  • Meiosis
  • References
  • Further reading

RecQ-mediated genome instability protein 1 is a protein that in humans is encoded by the RMI1 gene.

==Genetic disorders== Mutations in RMI1 are associated with Bloom-Syndrome like disorder. Two patients, both with microcephalic dwarfism came from the same family. They carried identical heterozygous mutations: [1255_1259del][Lys419LeufsTer5].

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