Trait
Increased blood alanine
Clinical name: Hyperalaninemia
An increased concentration of alanine in the blood.
Summary
- Also called
- Increased serum alanine
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test71 genes linked to Increased blood alanine
Changes in these genes cause rare conditions in which Increased blood alanine is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ATP5F1AATP synthase F1 subunit alpha | Always | In 3 conditions |
| CA5Acarbonic anhydrase 5A | Always | In 1 condition |
| COX18cytochrome c oxidase assembly factor COX18 | Always | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Always | In 1 condition |
| COX8Acytochrome c oxidase subunit 8A | Always | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Always | In 1 condition |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Always | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Always | In 1 condition |
| LIPT2lipoyl(octanoyl) transferase 2 | Always | In 1 condition |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Always | In 1 condition |
| MIPEPmitochondrial intermediate peptidase | Always | In 1 condition |
| MRPS14mitochondrial ribosomal protein S14 | Always | In 1 condition |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Always | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Always | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Always | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Always | In 1 condition |
| SCO1synthesis of cytochrome C oxidase 1 | Always | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Always | In 1 condition |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| TEFMtranscription elongation factor, mitochondrial | Always | In 1 condition |
| TMEM126Btransmembrane protein 126B | Always | In 1 condition |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Often (30–79%) | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Often (30–79%) | In 1 condition |
| ATP5F1EATP synthase F1 subunit epsilon | Often (30–79%) | In 1 condition |
| ATP5MKATP synthase membrane subunit k | Often (30–79%) | In 1 condition |
| ATP5POATP synthase peripheral stalk subunit OSCP | Often (30–79%) | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Often (30–79%) | In 1 condition |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Often (30–79%) | In 1 condition |
| COX16cytochrome c oxidase assembly factor COX16 | Often (30–79%) | In 1 condition |
| COX5Acytochrome c oxidase subunit 5A | Often (30–79%) | In 1 condition |
| DNM1Ldynamin 1L | Often (30–79%) | In 1 condition |
| DTYMKdeoxythymidylate kinase | Often (30–79%) | In 1 condition |
| LIG3DNA ligase 3 | Often (30–79%) | In 1 condition |
| MRPL3mitochondrial ribosomal protein L3 | Often (30–79%) | In 1 condition |
| MRPL39mitochondrial ribosomal protein L39 | Often (30–79%) | In 1 condition |
| MRPS2mitochondrial ribosomal protein S2 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 2 conditions |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Often (30–79%) | In 1 condition |
| MTO1mitochondrial tRNA translation optimization 1 | Often (30–79%) | In 2 conditions |
Show 31 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NAGSN-acetylglutamate synthase | Often (30–79%) | In 2 conditions |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Often (30–79%) | In 1 condition |
| NFS1NFS1 cysteine desulfurase | Often (30–79%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 1 condition |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Often (30–79%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 2 conditions |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Often (30–79%) | In 1 condition |
| SERAC1serine active site containing 1 | Often (30–79%) | In 1 condition |
| SLC7A7solute carrier family 7 member 7 | Often (30–79%) | In 1 condition |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Often (30–79%) | In 1 condition |
| TYMPthymidine phosphorylase | Often (30–79%) | In 1 condition |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Often (30–79%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| LYRM7LYR motif containing 7 | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sometimes (5–29%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 2 conditions |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| NGLY1N-glycanase 1 | Sometimes (5–29%) | In 1 condition |
| FBP1fructose-bisphosphatase 1 | Rarely (1–4%) | In 1 condition |
| COQ9coenzyme Q9 | Not recorded | In 1 condition |
| PCpyruvate carboxylase | Not recorded | In 1 condition |
| PDHXpyruvate dehydrogenase complex component X | Not recorded | In 1 condition |
| TMEM70transmembrane protein 70 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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