LP32768-1
DMPK gene
Active
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
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- DMPK gene
- Part Display Name
- DMPK gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2003-10-30
- Construct for LOINC Short Name
- DMPK gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | DMPK 基因 Synonyms: DM; |
| es-ES | Spanish (Spain) | Gen DMPK |
| it-IT | Italian (Italy) | DMPK, gene Synonyms: Gene DMPK |
| et-EE | Estonian (Estonia) | DMPK geen |
| tr-TR | Turkish (Turkey) | DMPK geni |
| ru-RU | Russian (Russian Federation) | DMPK ген |
| nl-NL | Dutch (Netherlands) | DMPK-gen Synonyms: DMPK gen |
| el-GR | Greek (Greece) | Γονίδιο DMPK Synonyms: Γονίδιο DMPK |
LOINC Copyright
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