|
Gene id |
1738 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
DLD Gene UCSC Ensembl |
|
Aliases |
DLDD, DLDH, E3, GCSL, LAD, PHE3 |
|
Gene name |
dihydrolipoamide dehydrogenase |
|
Alternate names |
dihydrolipoyl dehydrogenase, mitochondrial, E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, diaphorase, epididymis secretory sperm binding protein, glycine cleavage system L protein, glyc, |
|
Gene location |
7q31.1 (107891106: 107921197) Exons: 14 NC_000010.11
|
|
Gene summary(Entrez) |
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the e
|
|
OMIM |
238331 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
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| Associated diseases |
References |
| Pyruvate dehydrogenase complex deficiency | KEGG: H00072 |
| Maple syrup urine disease | KEGG: H00172 |
| Alzheimer's disease | GAD: 15389771 |
| Regulates sperm motility | MIK: 27289041 |
| Male factor infertility | MIK: 27289041 |
| Dihydrolipoamide dehydrogenase deficiency | KEGG: H02000 |
| Alpha-ketoglutarate dehydrogenase complex deficiency | KEGG: H02006 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Male factor infertility | MIK: 29961538 |
| Regulates sperm motility | MIK: 27289041 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 27289041 |
Regulates
sperm moti
lity, Male
infertili
ty
|
|
|
|
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 |
| 29961538 |
Male facto
r infertil
ity
|
|
|
318 (128 couple
s presenting wi
th OAT (MF) and
118 maternal a
ge-matched cont
rol (no MF) sub
jects undergoin
g infertility t
reatment, 72 su
rplus cryoprese
rved blastocyst
s)
|
Male infertility |
RNA-seq
|
Show abstract |
|