|
Gene id |
51079 |
| Gene Summary KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
NDUFA13 Gene UCSC Ensembl |
|
Aliases |
B16.6, CDA016, CGI-39, GRIM-19, GRIM19, MC1DN28 |
|
Gene name |
NADH:ubiquinone oxidoreductase subunit A13 |
|
Alternate names |
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13, CI-B16.6, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13, NADH-ubiquinone oxidoreductase B16.6 subunit, cell death regulatory protein GRIM-19, cell death-regulatory protein GRIM19, complex I, |
|
Gene location |
19p13.11 (19516224: 19528197) Exons: 5 NC_000002.12
|
|
Gene summary(Entrez) |
This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transf
|
|
OMIM |
609435 |
|
|
|
|
| Associated diseases |
References |
| Mitochondrial diseases | KEGG: H00473 |
| Asthenozoospermia | MIK: 27789183 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Asthenozoospermia | MIK: 27789183 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 27789183 |
Asthenozoo
spermia
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
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 |
|