|
Gene id |
5161 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PDHA2 Gene UCSC Ensembl |
|
Aliases |
PDHAL |
|
Gene name |
pyruvate dehydrogenase E1 alpha 2 subunit |
|
Alternate names |
pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial, PDHE1-A type II, pyruvate dehydrogenase (lipoamide) alpha 2, pyruvate dehydrogenase alpha 2, pyruvate dehydrogenase, E1-alpha polypeptide, testis specific, |
|
Gene location |
4q22.3 (95840092: 95841463) Exons: 1 NC_000001.11
|
|
OMIM |
179061 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
|
| Associated diseases |
References |
| Male factor infertility | MIK: 29581481 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Male infertility | MIK: 29581481 |
| Non obstructive azoospermia | MIK: 24012201 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29581481 |
Male infer
tility
|
(BMPR1B) c.640C>T (p.(Arg214Cys)), (PDHA2) c.679A>G (p.(Met227Val)) |
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 24012201 |
Non obstru
ctive azoo
spermia
|
|
|
31 (4 controls,
27 cases)
|
Male infertility |
GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
|
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 |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|