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This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin , a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments.
Within the cells, MYLK provides an inward pulling force, phosphorylating myosin light chain causing a contraction of the myosin/actin stress fiber complex. Conversely, cell-cell adhesion via tight and adherens junctions , along with anchoring to extra cellular matrix (ECM) via integrins and focal adhesion proteins results in an outward pulling ...
213435 Ensembl ENSG00000140795 ENSMUSG00000031698 UniProt Q32MK0 Q3UIZ8 RefSeq (mRNA) NM_001308301 NM_182493 NM_001297612 NM_175441 RefSeq (protein) NP_001295230 NP_872299 NP_001284541 NP_780650 Location (UCSC) Chr 16: 46.7 – 46.79 Mb Chr 8: 86.05 – 86.11 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Myosin light chain kinase 3 also known as MYLK3, is an enzyme which in humans ...
228785 Ensembl ENSG00000101306 ENSMUSG00000027470 UniProt Q9H1R3 Q8VCR8 RefSeq (mRNA) NM_033118 NM_001081044 RefSeq (protein) NP_149109 NP_001074513 Location (UCSC) Chr 20: 31.82 – 31.83 Mb Chr 2: 152.75 – 152.76 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Myosin light chain kinase 2 also known as MYLK2 is an enzyme which in humans is encoded by the MYLK2 gene. Function This ...
The gene MYLK, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin.
An example of a variant in an intergenic enhancer is one that is associated with blond hair color in northern Europeans. The variant in an enhancer of the KITLG gene causes only a 20% change in gene expression, yet causes hair lightening. [18] [19] An example of an intronic VUS controlling gene expression is the SNP found in an intron of the ...
Myosin light chain kinase 4 also known as MYLK4 is an enzyme which in humans is encoded by the MYLK2 gene. [2] MYLK4 is a member of the myosin light-chain kinase family of serine/threonine-specific protein kinases that phosphorylate the regulatory light chain of myosin II.
Structural variation is an important type of human genetic variation that contributes to phenotypic diversity. [2] There are microscopic and submicroscopic structural variants which include deletions, duplications, and large copy number variants as well as insertions, inversions, and translocations. [1]