Description

The PNKD gene (paroxysmal nonkinesigenic dyskinesia) [HGNC Gene ID:9153] is located on chromosome 2q35. This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] [NCBI Gene ID:25953] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Name
PNKD gene
Part Display Name
PNKD gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2008-10-01
Construct for LOINC Short Name
PNKD gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP71437-5
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Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)PNKD 基因
Synonyms: BRP17;DKFZp564N1362;DYT8;FKSG19;FPD1;KIAA1184;KIPP1184;MGC31943;MR-1;MR1;PDC;TAHCCP2;paroxysmal nonkinesigenic dyskinesia;paroxysmal non-kinesigenic dyskinesia;PNKD;阵发性非运动源性运动障碍;发作性非运动诱发性运动障碍;非运动诱发的阵发性运动障碍;陣發性動作型運動不良症
et-EEEstonian (Estonia)PNKD geen
es-ESSpanish (Spain)Gen PNKD
it-ITItalian (Italy)PNKD, gene
Synonyms: Gene PNKD
tr-TRTurkish (Turkey)PNKD geni
ru-RURussian (Russian Federation)PNKD ген
nl-NLDutch (Netherlands)PNKD-gen
Synonyms: PNKD gen
fr-FRFrench (France)PNKD gène
pl-PLPolish (Poland)PNKD gen
Synonyms: Gen PNKD
el-GRGreek (Greece)Γονίδιο PNKD
Synonyms: Γονίδιο PNKD