Recombinant Human DMPK cell lysate

• Cat.No.: DMPK-488HCL

Specification

• Description: 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.
• Species: Human
• Size: 100 ul
• Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
• Applications: Western Blot

Gene Information

• Gene Name: DMPK dystrophia myotonica-protein kinase [ Homo sapiens ]
• Official Symbol: DMPK
• Synonyms: DMPK; dystrophia myotonica-protein kinase; myotonin-protein kinase; DM; DM protein kinase; DM1; DM1PK; DMK; dystrophia myotonica 1; MDPK; MT PK; myotonic dystrophy associated protein kinase; myotonin protein kinase A; thymopoietin homolog; DM-kinase; DM1 protein kinase; myotonic dystrophy protein kinase; MT-PK
• Gene ID: 1760
• mRNA Refseq: NM_001081563
• Protein Refseq: NP_001075032
• MIM: 605377
• UniProt ID: Q09013
• Chromosome Location: 19q13.3
• Function: ATP binding; metal ion binding; myosin phosphatase regulator activity; nucleotide binding; protein binding; protein serine/threonine kinase activity