Træk
Increased blood alanine
Klinisk navn: Hyperalaninemia
An increased concentration of alanine in the blood.
Resumé
- Også kaldet
- Increased serum alanine
- Kropssystem
- Laboratory abnormality
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test71 gener knyttet til Increased blood alanine
Ændringer i disse gener forårsager sjældne tilstande, hvor Increased blood alanine ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ATP5F1AATP synthase F1 subunit alpha | Altid | I 3 tilstande |
| CA5Acarbonic anhydrase 5A | Altid | I 1 tilstand |
| COX18cytochrome c oxidase assembly factor COX18 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| COX8Acytochrome c oxidase subunit 8A | Altid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Altid | I 1 tilstand |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Altid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Altid | I 1 tilstand |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Altid | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Altid | I 1 tilstand |
| MRPS14mitochondrial ribosomal protein S14 | Altid | I 1 tilstand |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Altid | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Altid | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Altid | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Altid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Altid | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Altid | I 1 tilstand |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| TEFMtranscription elongation factor, mitochondrial | Altid | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Altid | I 1 tilstand |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Ofte (30–79 %) | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Ofte (30–79 %) | I 1 tilstand |
| COX5Acytochrome c oxidase subunit 5A | Ofte (30–79 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Ofte (30–79 %) | I 1 tilstand |
| MRPL3mitochondrial ribosomal protein L3 | Ofte (30–79 %) | I 1 tilstand |
| MRPL39mitochondrial ribosomal protein L39 | Ofte (30–79 %) | I 1 tilstand |
| MRPS2mitochondrial ribosomal protein S2 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Ofte (30–79 %) | I 2 tilstande |
Vis 31 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| NAGSN-acetylglutamate synthase | Ofte (30–79 %) | I 2 tilstande |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| NFS1NFS1 cysteine desulfurase | Ofte (30–79 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 1 tilstand |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 1 tilstand |
| SERAC1serine active site containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 1 tilstand |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Ofte (30–79 %) | I 1 tilstand |
| TYMPthymidine phosphorylase | Ofte (30–79 %) | I 1 tilstand |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Ofte (30–79 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBP1fructose-bisphosphatase 1 | Sjældent (1–4%) | I 1 tilstand |
| COQ9coenzyme Q9 | Ikke registreret | I 1 tilstand |
| PCpyruvate carboxylase | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger