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Gene

MYLK

myosin light chain kinase

Summary

Cytogenetic location
3q21.1
Coordinates
Chromosome 3: 123,610,049–123,884,332 (GRCh38)
Exons
34 exons across 274.3 kb
Protein
1,914 amino acids
Inheritance
Autosomal dominant
Also known as
MLCK, smMLCK, MYLK1, MLCK1, KRP, Telokin, MLCK108, MLCK210, MYLK-L
MANE Select transcript
ENST00000360304.8NM_053025.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Aortic Aneurysm

    • Familial Thoracic Aortic Aneurysm and DissectionAutosomal dominant

      Inherited widening and tearing of the thoracic aorta, caused by changes in genes such as ACTA2, MYH11, MYLK, LOX, PRKG1, MFAP5 and THSD4.

      • ClinGen rates the link strong
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports regular aortic imaging, blood pressure control and timely preventive surgery, and screening of relatives.

  • Hereditary Visceral Myopathy, CIPO & MMIHS

    • Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)

      A severe newborn condition with a greatly enlarged bladder, a small colon and poor bowel movement, caused by variants in smooth-muscle genes such as ACTG2, MYH11, MYLK, MYL9 and LMOD1.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Early diagnosis supports planning for nutritional support, bladder drainage and, in some cases, transplant.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How MYLK is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where MYLK sits. MYLK and 6 genes near it on chromosome 3, from 123,247,191 to 124,247,190.Chromosome 33q21.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29123.4 Mb123.6 Mb123.8 Mb124 Mb124.2 MbSEC22A: 123,201,859–123,275,509, forward strandSEC22AADCY5: 123,282,296–123,449,795, reverse strandADCY5HACD2: 123,490,820–123,585,193, reverse strandHACD2MYLK: 123,610,049–123,884,332, reverse strandMYLKCCDC14: 123,897,305–123,961,443, reverse strandCCDC14ROPN1: 123,968,521–123,992,178, reverse strandROPN1KALRN: 124,033,310–124,726,325, forward strandKALRNDiagram of MYLK: 34 exons on the reverse strand of chromosome 3Exon 31: 3 known disease-causing sitesExon 30: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 28: 2 known disease-causing sitesExon 27: 9 known disease-causing sitesExon 26: 3 known disease-causing sitesExon 24: 8 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 22: 5 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 18: 12 known disease-causing sitesExon 16: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 34: 123,610,049–123,614,349, 4,301 basesExon 33: 123,618,639–123,618,770, 132 basesExon 32: 123,620,207–123,620,336, 130 basesExon 31: 123,626,818–123,626,941, 124 basesExon 30: 123,629,474–123,629,626, 153 basesExon 29: 123,638,071–123,638,194, 124 basesExon 28: 123,640,287–123,640,504, 218 basesExon 27: 123,647,224–123,647,427, 204 basesExon 26: 123,648,971–123,649,064, 94 basesExon 25: 123,649,162–123,649,194, 33 basesExon 24: 123,657,126–123,657,428, 303 basesExon 23: 123,664,105–123,664,258, 154 basesExon 22: 123,666,219–123,666,346, 128 basesExon 21: 123,667,137–123,667,187, 51 basesExon 20: 123,682,224–123,682,310, 87 basesExon 19: 123,692,735–123,692,851, 117 basesExon 18: 123,700,020–123,701,005, 986 basesExon 17: 123,701,438–123,701,509, 72 basesExon 16: 123,707,754–123,708,003, 250 basesExon 15: 123,708,698–123,708,895, 198 basesExon 14: 123,709,756–123,709,893, 138 basesExon 13: 123,722,128–123,722,280, 153 basesExon 12: 123,725,944–123,726,078, 135 basesExon 11: 123,732,896–123,733,102, 207 basesExon 10: 123,733,687–123,734,222, 536 basesExon 9: 123,735,398–123,735,416, 19 basesExon 8: 123,737,378–123,737,543, 166 basesExon 7: 123,738,897–123,739,062, 166 basesExon 6: 123,739,953–123,740,001, 49 basesExon 5: 123,752,331–123,752,538, 208 basesExon 4: 123,793,677–123,793,844, 168 basesExon 3: 123,831,548–123,831,670, 123 basesExon 2: 123,876,559–123,876,617, 59 basesExon 1: 123,884,206–123,884,332, 127 bases343025201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 10.1 kb of the gene's 274.3 kb; 5,745 of those bases code for the protein.

How a genome test reads MYLK

65

positions in MYLK where ClinVar classes a change as pathogenic or likely pathogenic

16 of them (25%) fall in regions short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (16 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 274.3 kb of MYLK, introns included, not only the 10.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MYLK gene: myosin light chain kinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/mylk

Vancouver

Dante Labs. MYLK gene: myosin light chain kinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mylk

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