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Part Description

LP186036-2   Phosphomannomutase 2
Phosphomannomutase 2 (PMM2) is involved in the synthesis of GDP-mannose from mannose-1-phosphate. It is encoded by the PMM2 gene, which is located on chromosome 16p13.2. PMM2 enzyme deficiency is the cause of congenital disorder of glycosylation type Ia (CDG Ia, also known as Jaeken syndrome), an autosomal recessive disorder that presents in the neonatal period and is characterized by hypotonia, seizures, significant cognitive delay, encephalopathy, cardiomyopathy, liver insufficiency and hypogonadism. Twenty percent of affected patients die by the age of 2. [OMIM: 212065] Source: Regenstrief LOINC, OMIM: 212065

LOINC Names Get Info

Fully-Specified Name
Phosphomannomutase 2:CCnt:Pt:Fibroblasts:Qn:
Long Common Name
Phosphomannomutase 2 [Enzymatic activity/mass] in Fibroblast
Short Name
PMM2 Fib-cCnt
Display Name
Phosphomannomutase 2 (Fibroblast) [Catalytic activity/Mass]
Consumer Name Alpha Get Info
Phosphomannomutase 2, Fibroblast

Part Model Get Info

  • Component
    Phosphomannomutase 2
    LP186036-2
    • Analyte
      Phosphomannomutase 2
      LP186036-2
      • Component Numerator
        Phosphomannomutase 2
        LP186036-2
        • Component Numerator Core
          Phosphomannomutase 2
          LP186036-2
        • 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 2.50
Last Updated
Version 2.50 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Fosfomanomutáza 2:Katalytický obsah:Časový bod:Fibroblast:Kvantitativní:
el-GRGreek (Greece)Φωσφομαννομουτάση 2:CCnt:Pt:Ινοβλάστες:Qn:
Synonyms: CCnt CHEM Pt Qn Ινοβλάστες Φωσφομαννομουτάση 2
es-ESSpanish (Spain)Fosfomanomutasa 2:Contenido catalítico:Punto temporal:Fibroblastos:Qn:
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Fosfomanomutasa 2:Contenido catalítico:Punto temporal:Fibroblasto:Cuantitativo:
fr-FRFrench (France)Phosphomannomutase 2:Catalytique/Masse:Ponctuel:Fibroblastes:Numérique:
it-ITItalian (Italy)Phosphomannomutase 2:CCnt:Pt:Fibroblasti:Qn:
Synonyms: Chimica Contenuto Catalitico Fibroblasto Punto nel tempo (episodio)
nl-NLDutch (Netherlands)fosfomannomutase 2:enzymatische activiteit/massa:moment:fibroblast:kwantitatief:
tr-TRTurkish (Turkey)Fosfomannomutaz 2:Ktlİçrk:Zmlı:Fibroblastlar:Kant:
zh-CNChinese (China)磷酸甘露糖变位酶 2:催化含量:时间点:成纤维细胞:定量型:
Synonyms: Ⅱ II 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 甘露糖磷酸变位酶 2;PMM2;PMM-2 纤维原细胞;纤维母细胞

Example Units

UnitSource
nmol/min/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=76026-4