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Part Description

LP201767-3   Cystathionine beta synthase
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

LOINC Names Get Info

Fully-Specified Name
Cystathionine beta synthase:CCnt:Pt:Fibroblasts:Qn:
Long Common Name
Cystathionine beta synthase [Enzymatic activity/mass] in Fibroblast
Short Name
CBS Fib-cCnt
Display Name
Cystathionine beta synthase (Fibroblast) [Catalytic activity/Mass]
Consumer Name Alpha Get Info
Cystathionine beta synthase, Fibroblast

Part Model Get Info

  • Component
    Cystathionine beta synthase
    LP201767-3
    • Analyte
      Cystathionine beta synthase
      LP201767-3
      • Component Numerator
        Cystathionine beta synthase
        LP201767-3
        • Component Numerator Core
          Cystathionine beta synthase
          LP201767-3
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    CCnt
    LP6790-2
  • Time
    Pt
    LP6960-1
  • System
    Fibroblasts
    LP7234-0
    • System Core
      Fibroblasts
      LP7234-0
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    NULL
     

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Cystathionin-beta-syntáza:Katalytický obsah:Časový bod:Fibroblast:Kvantitativní:
el-GRGreek (Greece)β-συνθάση κυσταθειονίνης:CCnt:Pt:Ινοβλάστες:Qn:
Synonyms: CCnt CHEM Pt Qn β-συνθάση κυσταθειονίνης Ινοβλάστες Κυσταθειονίνη
es-ESSpanish (Spain)Cistationina beta sintasa:Contenido catalítico:Punto temporal:Fibroblastos:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Cistationina beta sintasa:Contenido catalítico:Punto temporal:Fibroblasto:Cuantitativo:
fr-FRFrench (France)Cystathionine bêta synthase:Catalytique/Masse:Ponctuel:Fibroblastes:Numérique:
it-ITItalian (Italy)Cistationina beta sintasi:CCnt:Pt:Fibroblasti:Qn:
Synonyms: Chimica Contenuto Catalitico Fibroblasto Punto nel tempo (episodio)
nl-NLDutch (Netherlands)cystathionine-bèta-synthase:enzymatische activiteit/massa:moment:fibroblast:kwantitatief:
pl-PLPolish (Poland)Beta-syntaza cystationinowa:zawartość katalityczna:punkt w czasie:fibroblasty:ilościowy:
Synonyms: CBS
zh-CNChinese (China)胱硫醚 beta 合酶:催化含量:时间点:成纤维细胞:定量型:
Synonyms: B β 催化含量(单位质量);单位质量的酶单位数 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 纤维原细胞;纤维母细胞 胱硫醚 胱硫醚β合酶;胱硫醚 beta 合成酶;胱硫醚β合成酶 贝塔

Example Units

UnitSource
nmol/h/mg{protein}Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=82223-9