|
Gene id |
146956 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
EME1 Gene UCSC Ensembl |
|
Aliases |
MMS4L, SLX2A |
|
Gene name |
essential meiotic structure-specific endonuclease 1 |
|
Alternate names |
crossover junction endonuclease EME1, MMS4 homolog, SLX2 structure-specific endonuclease subunit homolog A, essential meiotic endonuclease 1 homolog 1, essential meiotic endonuclease 1 homolog 2, hMMS4, homolog of yeast EME1 endonuclease, |
|
Gene location |
17q21.33 (50373219: 50381478) Exons: 10 NC_000002.12
|
|
Gene summary(Entrez) |
This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures an
|
|
OMIM |
610885 |
|
| Pathway id | Pathway name |
|---|
| hsa03440 | Homologous recombination | | hsa03460 | Fanconi anemia pathway | |
|
| Associated diseases |
References |
| Brain neoplasms | GAD: 18559551 |
| Cancer (breast) | GAD: 19714462 |
| Multiple sclerosis | GAD: 20522537 |
| Obesity | GAD: 20734064 |
| Chronic renal failure | GAD: 21085059 |
| Influences germ cell proliferation in spermatogenesis | MIK: 27612028 |
| Male factor infertility | MIK: 27612028 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Influences germ cell proliferation in spermatogenesis | MIK: 27612028 |
| Male infertility | MIK: 27612028 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 27612028 |
Influences
germ cell
prolifera
tion in sp
ermatogene
sis, Male
infertilit
y
|
|
|
|
Male infertility |
|
Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|