| Tbio | Dihydrolipoyl dehydrogenase, mitochondrial |
Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex). In monomeric form has additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity).
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 encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
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 encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Lactic Acidosis, Congenital Infantile, Due To LAD Deficiency | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| cystic fibrosis | 1696 | 1.7e-04 |
| Multiple myeloma | 1332 | 1.2e-03 |
| ovarian cancer | 8520 | 5.8e-03 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 2.5e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Crohn's disease | 321 | 0.0 | 3.0 |
| ulcerative colitis | 1819 | 0.0 | 1.7 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| late-onset retinal degenration | 12 | 4.664 | 2.3 |
| Cutaneous anthrax | 8 | 3.843 | 1.9 |
| Lactic acidosis | 51 | 3.317 | 1.7 |
| Congenital hereditary endothelial dystrophy of cornea | 8 | 3.256 | 1.6 |
| Disease | Target Count |
|---|---|
| Maple syrup urine disease | 24 |
| Dihydrolipoamide Dehydrogenase Deficiency | 1 |
| Disease | log2 FC | p |
|---|---|---|
| cystic fibrosis | -1.186 | 1.7e-04 |
| Multiple myeloma | 1.482 | 1.2e-03 |
| ovarian cancer | -1.200 | 5.8e-03 |
| pancreatic ductal adenocarcinoma liver m... | -1.947 | 2.5e-02 |
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCI 1 - 70 EKNETLGGTCLNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAH 71 - 140 LFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLK 141 - 210 KVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTG 211 - 280 ATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNI 281 - 350 YAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGK 351 - 420 FPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTL 421 - 490 SEAFREANLAASFGKSINF 491 - 509 //
