AMACR Chromosome 5
Alpha-methylacyl-CoA racemase
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What This Gene Does
This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
Associated Conditions (6)
Alpha-methylacyl-CoA racemase deficiency
Inborn genetic diseases
AMACR-related disorder
Mitochondrial complex I deficiency
Congenital bile acid synthesis defect 4
Autosomal recessive AMACR-related disorders
Key Variants
RS1333701891
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, Inborn genetic diseases, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS1361255226
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS143877467
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS144271819
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS145786819
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS1753722683
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS181341030
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, Congenital bile acid synthesis defect 4, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS199734111
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS200505839
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, Inborn genetic diseases, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS200824585
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS35448266
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
Health Risk
RS368427062
Conflicting classifications of pathogenicity
Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1333701891 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Inborn genetic diseases, Alpha-methylacyl-CoA racemase deficiency |
| RS1361255226 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS143877467 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS144271819 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS145786819 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency |
| RS1753722683 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS181341030 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, Congenital bile acid synthesis defect 4, Alpha-methylacyl-CoA racemase deficiency |
| RS199734111 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency |
| RS200505839 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Inborn genetic diseases, Alpha-methylacyl-CoA racemase deficiency |
| RS200824585 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency |
| RS35448266 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS368427062 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency |
| RS561675407 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS757072374 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS769780647 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency |
| RS770927461 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS775128044 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS779290495 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder, Alpha-methylacyl-CoA racemase deficiency |
| RS779779299 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS780679627 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS780748531 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency |
| RS9282593 | Health Risk | Conflicting classifications of pathogenicity | Alpha-methylacyl-CoA racemase deficiency, Congenital bile acid synthesis defect 4, AMACR-related disorder |
| RS121917816 | Health Risk | Pathogenic | Congenital bile acid synthesis defect 4, Congenital bile acid synthesis defect 4 |
| RS121917814 | Health Risk | Pathogenic/Likely pathogenic | Alpha-methylacyl-CoA racemase deficiency, Congenital bile acid synthesis defect 4, Inborn genetic diseases |