LP201767-3
Cystathionine beta synthase
Active
Description
Cystathionine beta-synthase (EC 4.2.1.22) is an enzyme encoded by the CBS gene [HGNC Gene ID: 1550] and converts homocysteine and serine to form cystathionine. Mutations in the CBS gene disrupt the normal function of cystathionine beta-synthase, causing a build up of homocysteine. Patients with homocystinuria caused by CBS deficiency present with developmental delay, ectopia lentis and/or severe myopia, skeletal abnormalities and thromboembolism.[NCBI Books: NBK1524] Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Cystathionine beta synthase
- Part Display Name
- Cystathionine beta synthase
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-10-27
- Construct for LOINC Short Name
- CBS
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 胱硫醚 beta 合酶 Synonyms: 胱硫醚β合酶; |
| es-ES | Spanish (Spain) | Cistationina beta sintasa |
| it-IT | Italian (Italy) | Cistationina beta sintasi |
| nl-NL | Dutch (Netherlands) | cystathionine-bèta-synthase |
| fr-FR | French (France) | Cystathionine bêta synthase |
| pl-PL | Polish (Poland) | Beta-syntaza cystationinowa Synonyms: CBS |
| el-GR | Greek (Greece) | β-συνθάση κυσταθειονίνης Synonyms: β-συνθάση κυσταθειονίνης |
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://