Early Detection Research Network

DMPK

Aliases:
This biomarker is also known as:
  • DM,
  • DM1,
  • DM protein kinase,
  • DM1PK,
  • MT-PK,
  • myotonic dystrophy associated protein kinase,
  • MDPK,
  • DMK,
  • EC 2.7.11.1,
  • DM1 protein kinase,
  • DM-kinase,
  • thymopoietin homolog,
  • myotonic dystrophy protein kinase,
  • dystrophia myotonica-protein kinase,
  • Myotonic dystrophy protein kinase,
  • myotonin protein kinase A,
  • myotonin-protein kinase,

Description…

From NCBI Gene: 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 5-38 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 2016]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State 3: Under Review
Type: Gene
Short Name:
HGNC Name 3: DMPK

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact Heather Kincaid at heather.kincaid@jpl.nasa.gov if you should have access to this biomarker.