Version 2.78

Description

The DMPK gene (dystrophia myotonica-protein kinase) [HGNC Gene ID:2933] is located on chromosome 19q13.3. The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1760] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
DMPK gene CTG repeats
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
DMPK gene CTG Rpt

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19787-8
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19787-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) DMPK 基因.CTG 重复序列
et-EE Estonian (Estonia) DMPK geen.CTG kordused
es-ES Spanish (Spain) Repeticiones CTG del gen DMPK
it-IT Italian (Italy) DMPK, gene.ripetizioni CTG
Synonyms: Ripetizioni CTG del gene DMPK
tr-TR Turkish (Turkey) DMPK geni.CTG tekrarları
ru-RU Russian (Russian Federation) DMPK ген.CTG повторы
nl-NL Dutch (Netherlands) DMPK-gen.CTG repeats
Synonyms: DMPK gen.CTG repeats