MYL11 Chromosome 16
Myosin light chain 11
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What This Gene Does
Predicted to enable calcium ion binding activity. Predicted to be a structural constituent of muscle. Involved in muscle contraction. Located in lysosomal membrane. Implicated in distal arthrogryposis type 1C. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Myosin light chains, class 2
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000180209
Associated Conditions (4)
Distal arthrogryposis
Arthrogryposis
distal
type 1C
Key Variants
RS2049733161
Pathogenic/Likely pathogenic
Distal arthrogryposis, Arthrogryposis, distal
Health Risk
RS2049768364
Pathogenic/Likely pathogenic
Distal arthrogryposis, Arthrogryposis, distal
Health Risk
RS748809300
Pathogenic/Likely pathogenic
Distal arthrogryposis, Arthrogryposis, distal
Health Risk
RS756765686
Pathogenic/Likely pathogenic
Distal arthrogryposis, Arthrogryposis, distal
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2049733161 | Health Risk | Pathogenic/Likely pathogenic | Distal arthrogryposis, Arthrogryposis, distal |
| RS2049768364 | Health Risk | Pathogenic/Likely pathogenic | Distal arthrogryposis, Arthrogryposis, distal |
| RS748809300 | Health Risk | Pathogenic/Likely pathogenic | Distal arthrogryposis, Arthrogryposis, distal |
| RS756765686 | Health Risk | Pathogenic/Likely pathogenic | Distal arthrogryposis, Arthrogryposis, distal |