MYLK Chromosome 3
Myosin light chain kinase
Upload your DNA to see your personal genotypes for variants in MYLK.
What This Gene Does
This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. 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. A pseudogene is located on the p arm of chromosome 3. 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. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Myosin light chain kinase family"
Locus Type
gene with protein product
Location
3q21.1
Ensembl
ENSG00000065534
Associated Conditions (24)
Aortic aneurysm
familial thoracic 7
Familial thoracic aortic aneurysm and aortic dissection
Lung cancer
Familial aortic aneurysms
MYLK-related disorder
Connective tissue disorder
Congenital aneurysm of ascending aorta
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
Marfan syndrome
familial abdominal
1
Familial aortopathy
Megacystis-Microcolon Hypoperistalsis Syndrome 1
Familial cancer of breast
Uterine corpus endometrial carcinoma
Disproportionate tall stature
Loeys-Dietz syndrome
See cases
Isolated thoracic aortic aneurysm
+4 more conditions
Key Variants
RS1016031661
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1033918125
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1057523680
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS1060504648
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS112537316
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS113124819
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 7
Health Risk
RS113607507
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 7
Health Risk
RS11558550
Conflicting classifications of pathogenicity
Familial aortic aneurysms, Aortic aneurysm, familial thoracic 7
Health Risk
RS12172928
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 7, Aortic aneurysm
Health Risk
RS1219266312
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 7
Health Risk
RS13319347
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS137982786
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (221)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765175526 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS765597431 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS765727285 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS766027720 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS76655666 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS770373926 | Health Risk | Conflicting classifications of pathogenicity | See cases, Aortic aneurysm, familial thoracic 7 |
| RS770667051 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS770709606 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770980369 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS771299009 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS771815695 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS773082759 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS773956836 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS774568740 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS775877814 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS776506361 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS776825316 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS776975714 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Aortic aneurysm, familial thoracic 7 |
| RS777401981 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS778050996 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS778578954 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS779148876 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 7 |
| RS780888701 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS781483544 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS865903260 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS886038709 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS886057860 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS928811814 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS941766411 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS948829374 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS1237794394 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS1255387521 | Health Risk | Likely pathogenic | — |
| RS1430822242 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS1553780501 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS1553808296 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2059661877 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS2108006223 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS2108112355 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS2108577268 | Health Risk | Likely pathogenic | Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm |
| RS2108636142 | Health Risk | Likely pathogenic | — |
| RS2108787283 | Health Risk | Likely pathogenic | — |
| RS2108881184 | Health Risk | Likely pathogenic | — |
| RS375931940 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS762794821 | Health Risk | Likely pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS1047937861 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS1060502531 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS1382893400 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 7, Familial thoracic aortic aneurysm and aortic dissection |
| RS1553781304 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS1553785222 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 7, Aortic aneurysm |
| RS1553787619 | Health Risk | Pathogenic | Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, Visceral myopathy 1 |