Function
Locations
Dehydrogenates isobutyryl-CoA to methacrylyl-CoA (valine, FAD/ETF).
After the shared, mitochondrial branched-chain aminotransferase (BCAT2) and branched-chain alpha-ketoacid dehydrogenase (BCKDH) steps deaminate and oxidatively decarboxylate the three branched-chain amino acids to their acyl-CoA thioesters, valine and isoleucine follow their own distal degradation routes in the mitochondrial matrix that converge on propionyl-CoA. In the VALINE route, isobutyryl-CoA is dehydrogenated by isobutyryl-CoA dehydrogenase (ACAD8, an FAD enzyme feeding electrons to ETF) to methacrylyl-CoA; the crotonase ECHS1 (curated elsewhere) hydrates this to (S)-3-hydroxyisobutyryl-CoA, which the crotonase-superfamily hydrolase HIBCH deacylates to free 3-hydroxyisobutyrate + CoA (a step thought to detoxify the reactive methacrylyl-CoA). 3-Hydroxy- isobutyrate dehydrogenase (HIBADH, NAD+) then oxidises it to (S)-methylmalonate semialdehyde, and the CoA-acylating aldehyde dehydrogenase ALDH6A1 (methylmalonate-semialdehyde dehydrogenase) oxidatively decarboxylates that to propionyl-CoA. In the ISOLEUCINE route, 2-methylbutyryl-CoA is dehydrogenated by the short/branched-chain acyl-CoA dehydrogenase ACADSB (FAD -> ETF) to tiglyl-CoA; ECHS1 hydrates it, and HSD17B10 (the moonlighting SDR protein MRPP2/HADH2, in its 2-methyl-3-hydroxybutyryl-CoA dehydrogenase role, NAD+) oxidises 2-methyl-3-hydroxybutyryl-CoA to 2-methylacetoacetyl-CoA, which the thiolase ACAT1 (curated elsewhere) cleaves to propionyl-CoA + acetyl-CoA. The propionyl-CoA produced by both routes enters the propionyl-CoA -> methylmalonyl-CoA -> succinyl-CoA anaplerotic pathway (PCC/MUT). Inherited defects at each step cause distinct organic acidurias (ACAD8: isobutyryl-CoA dehydrogenase deficiency; ACADSB: 2-methylbutyryl-CoA dehydrogenase deficiency; HIBCH and ALDH6A1: valine-pathway neurometabolic disease; HSD17B10: X-linked MHBD deficiency, which also impairs the protein's separate mitochondrial RNase P role).
All recommended fields populated.
✗ none found
No MODULE:valine_isoleucine_distal_catabolism deep-research report alongside the module YAML.
✓ every leaf node grounds to a representative protein.
✓ every declared conforms_to bundle matches its template motif.
6 complete review(s) · 0 with deep research · 0 missing review · 6 reviewed but lacking deep research
| Gene | Review | Complete | Deep research |
|---|---|---|---|
| ACAD8 Q9UKU7 | ✓ | ✓ | ✗ |
| ACADSB P45954 | ✓ | ✓ | ✗ |
| ALDH6A1 Q02252 | ✓ | ✓ | ✗ |
| HIBADH P31937 | ✓ | ✓ | ✗ |
| HIBCH Q6NVY1 | ✓ | ✓ | ✗ |
| HSD17B10 Q99714 | ✓ | ✓ | ✗ |
Distal valine and isoleucine catabolism (GO:0006574 / GO:0006550), grounded to six completed human gene reviews, all mitochondrial-matrix enzymes from distinct PANTHER families. VALINE branch: ACAD8 (Q9UKU7 PTHR43831, GO:0003853 + FAD) -> [ECHS1] -> HIBCH (Q6NVY1 PTHR43176, GO:0003860) -> HIBADH (P31937 PTHR22981, GO:0008442 + NAD) -> ALDH6A1 (Q02252 PTHR43866, GO:0004491 acylating + GO:0018478) -> propionyl-CoA. ISOLEUCINE branch: ACADSB (P45954 PTHR43884, GO:0003853 + FAD) -> [ECHS1] -> HSD17B10 (Q99714 PTHR43658, GO:0047015 MHBD + NAD) -> [ACAT1 thiolase] -> propionyl-CoA + acetyl-CoA. Both branches feed propionyl-CoA into the PCC/MUT anaplerotic route (curated separately). ALDH6A1 is shared with pyrimidine/beta-alanine catabolism (malonate-semialdehyde -> acetyl-CoA, GO:0018478 / GO:0006210). HSD17B10 is a moonlighting protein: its second, non-catalytic role as the mt-RNase P subunit MRPP2 (mitochondrial tRNA 5'-processing and m1A9/m1G9 methylation) is documented in the HSD17B10 gene review and is deliberately NOT modelled as a metabolic node here. The FAD-linked ACAD8/ACADSB steps deposit electrons on ETF/ETFDH (curated in the flavin/ETF modules). GO term ids/labels verified against the local go.db. Disorders: ACAD8 IBDD; ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency; HIBCH and ALDH6A1 valine-pathway neurometabolic disease; HSD17B10 X-linked MHBD deficiency.
Dehydrogenates isobutyryl-CoA to methacrylyl-CoA (valine, FAD/ETF).
Hydrolyses 3-hydroxyisobutyryl-CoA to 3-hydroxyisobutyrate + CoA (valine).
Oxidises 3-hydroxyisobutyrate to methylmalonate semialdehyde (valine, NAD+).
Oxidatively decarboxylates methylmalonate semialdehyde to propionyl-CoA (valine).
Dehydrogenates 2-methylbutyryl-CoA to tiglyl-CoA (isoleucine, FAD/ETF).
Oxidises 2-methyl-3-hydroxybutyryl-CoA to 2-methylacetoacetyl-CoA (isoleucine, NAD+).