MCM9 (minichromosome maintenance 9 homologous recombination repair factor)

2012-09-01  

Identity

HGNC
LOCATION
6q22.31
LOCUSID
ALIAS
C6orf61,MCMDC1,ODG4,dJ329L24.1,dJ329L24.3
FUSION GENES

Other Information

Locus ID:

NCBI: 254394
MIM: 610098
HGNC: 21484
Ensembl: ENSG00000111877

Variants:

dbSNP: 254394
ClinVar: 254394
TCGA: ENSG00000111877
COSMIC: MCM9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111877ENST00000316068Q9NXL9
ENSG00000111877ENST00000316068A0A0S2Z662
ENSG00000111877ENST00000316316Q9NXL9
ENSG00000111877ENST00000425154D6RHY8
ENSG00000111877ENST00000458674H0Y6M9
ENSG00000111877ENST00000505446D6RE85
ENSG00000111877ENST00000619706Q9NXL9

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
386780262024Mechanism of DNA unwinding by MCM8-9 in complex with HROB.1
386780262024Mechanism of DNA unwinding by MCM8-9 in complex with HROB.1
373098742023Activity, substrate preference and structure of the HsMCM8/9 helicase.1
373098742023Activity, substrate preference and structure of the HsMCM8/9 helicase.1
337509442021The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.2
340439452021Structural study of the N-terminal domain of human MCM8/9 complex.6
337509442021The etiology of Down syndrome: Maternal MCM9 polymorphisms increase risk of reduced recombination and nondisjunction of chromosome 21 during meiosis I within oocyte.2
340439452021Structural study of the N-terminal domain of human MCM8/9 complex.6
321459322020Novel pathogenic mutations in minichromosome maintenance complex component 9 (MCM9) responsible for premature ovarian insufficiency.17
325280602020MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.22
326136042020An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.7
321459322020Novel pathogenic mutations in minichromosome maintenance complex component 9 (MCM9) responsible for premature ovarian insufficiency.17
325280602020MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.22
326136042020An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.7
304064452019Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.23

Citation

Dessen P

MCM9 (minichromosome maintenance 9 homologous recombination repair factor)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52895/mcm9