MYL9 Chromosome 20
Myosin light chain 9
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What This Gene Does
Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Myosin light chains, class 2
Locus Type
gene with protein product
Location
20q11.23
Ensembl
ENSG00000101335
Associated Conditions (2)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 4
Visceral myopathy 1
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1569529545 | Health Risk | Conflicting classifications of pathogenicity | Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 |