LP201754-1
Alkyl-dihydroxyacetonephosphate synthase
Active
Description
Alkyl-dihydroxyacetonephosphate (alkyl-DHAP) synthase [UniProt: O00116] is involved in the biosynthesis of plasmalogens.Alkyl-DHAP synthase is deficient in rhizomelic chondrodysplasia punctata type 2 (RCDP2), a lethal autosomal recessive disease is characterized by shortening or proximal extremities, severely altered endochondrial bone formation, and mental retardation with spasticity.[OMIM: 222765] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Alkyl-dihydroxyacetonephosphate synthase
- Part Display Name
- Alkyl-dihydroxyacetonephosphate synthase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-10-27
- Construct for LOINC Short Name
- Alkyl-DHAP synthase
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 烷基-二羟基丙酮磷酸合酶 Synonyms: 烷基-二羟基丙酮磷酸合成酶 |
| es-ES | Spanish (Spain) | Alquil-acetonafosfato-sintetasa |
| it-IT | Italian (Italy) | Alchil-diidrossiacetone fosfato sintasi |
| nl-NL | Dutch (Netherlands) | alkyl-dihydroxyacetonfosfaat synthase |
| fr-FR | French (France) | Dihydroacétone phosphate acyltransférase |
| pl-PL | Polish (Poland) | Syntaza alkilo-dihydroksyacetonofosforanowa |
| el-GR | Greek (Greece) | Αλκυλο-διυδροξυακετονοφωσφορική συνθάση Synonyms: Αλκυλο-διυδροξυακετονοφωσφορική συνθάση |
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://