LP201758-2
Alpha-methylacyl CoA racemase
Active
Description
Alpha-methylacyl-CoA racemase [UniProt: Q9UHK6] is involved in the racemization of 2-methyl-branched fatty acid CoA esters and encoded by the AMACR gene [HGNC Gene ID: 451]. Mutations in the AMACR gene cause alpha-methylacyl-CoA racemase deficiency (AMACRD), a rare autosomal recessive peroxisomal disorder. Patients with AMACRD have variable neurodegenerative symptoms, including seizures, visual failure, sensorimotor neuropathy, spasticity, and migraines. [OMIM:614307] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Alpha-methylacyl CoA racemase
- Part Display Name
- Alpha-methylacyl CoA racemase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-10-27
- Construct for LOINC Short Name
- AMACR
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | Alpha-甲基酰基辅酶 A 消旋酶 Synonyms: Alpha-甲基酰基-CoA 消旋酶; |
| es-ES | Spanish (Spain) | Alfa-metilacil-CoA racemasa |
| it-IT | Italian (Italy) | Alfa-metilacil CoA racemasi |
| nl-NL | Dutch (Netherlands) | alfa-methylacyl-CoA-racemase |
| fr-FR | French (France) | Alpha-méthylacyl CoA racémase |
| pl-PL | Polish (Poland) | Racemaza alfa-metyloacylo CoA Synonyms: AMACR |
| el-GR | Greek (Greece) | Α-μεθυλακυλο-CoA ρακεμάση Synonyms: Α-μεθυλακυλο-CoA ρακεμάση |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://