Recombinant Human POMK Protein, MYC/DDK-tagged

• Cat.No.: POMK-2450H
• Product Overview: Recombinant Human POMK protein, fused to MYC/DDK-tagged at C-terminus, was expressed in HEK293.

Specification

• Description: This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants.
• Source: HEK293
• Species: Human
• Tag: MYC/DDK
• Form: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
• Molecular Mass: 39.9 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method

Gene Information

• Gene Name: POMK protein-O-mannose kinase [ Homo sapiens ]
• Official Symbol: POMK
• Synonyms: MDDGA12; MDDGC12; SGK196
• Gene ID: 84197
• mRNA Refseq: NM_001277971.1
• Protein Refseq: NP_001264900.1
• MIM: 615247
• UniProt ID: Q9H5K3