RMI1
Sign in to saveAlso 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
Gene · Ensembl
RecQ mediated genome instability 1
- Symbol
- RMI1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:83,980,355-84,004,078
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein RMI1 PDB 3MXN.png
Show 8 more facts
- HomoloGene ID
- 41601
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/80010
- genomic end
- 86618985
- genomic start
- 83980798
- chromosome
- human chromosome 9
- cytogenetic location
- 9q21.32
- expressed in
- retinal pigment epithelium
Sources (4)
via Wikidata · CC0
~2 min read
Encyclopedic overview
5 sectionsContents
- 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].
Excerpted from Wikipedia’s “RMI1” article, available under the CC BY-SA 4.0 licence.