2 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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20PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmuscle contractionlysosomal membraneactin-myosin filament slidingarthrogryposis, distal, type 1Cdistal arthrogryposisLethal congenital contracture syndrome type 3lethal congenital contracture syndrome 3
Based on limited published evidence, MYL11 encodes a myosin regulatory light chain essential for maintaining muscle integrity during early development and muscle contraction through actin-myosin filament sliding. The protein functions as a structural component of muscle myosin complexes and exhibits calcium ion binding capacity. MYL11 is associated with arthrogryposis, distal, 1C. Recent proteomic studies identified MYL11 as significantly elevated in plasma and cerebrospinal fluid of amyotrophic lateral sclerosis patients 1, suggesting a role as a muscle-derived biomarker in neuromuscular disease.
1
MYL11 is significantly elevated in plasma and CSF of ALS patients and increases with disease progression, serving as a muscle-derived biomarker
PMID: 41020397⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
arthrogryposis, distal, type 1COpen Targets
distal arthrogryposisOpen Targets
Lethal congenital contracture syndrome type 3Open Targets
lethal congenital contracture syndrome 3Open Targets
lethal congenital contracture syndrome 4Open Targets
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiencyOpen Targets
congenital myopathy 2b, severe infantile, autosomal recessiveOpen Targets
myopathy, reducing body, X-linked, early-onset, severeOpen Targets
myofibrillar myopathy 3Open Targets
pontocerebellar hypoplasia, type 1COpen Targets
arthrogryposis multiplex congenitaOpen Targets
fatal infantile hypertonic myofibrillar myopathyOpen Targets
spinal muscular atrophy, type 1Open Targets
Hereditary proximal myopathy with early respiratory failureOpen Targets
myofibrillar myopathy 9 with early respiratory failureOpen Targets
myopathy, myofibrillar, 9, with early respiratory failureOpen Targets
congenital muscular dystrophy 1BOpen Targets
Congenital muscular dystrophy type 1BOpen Targets
Emery-Dreifuss muscular dystrophyOpen Targets
amyotrophic lateral sclerosis 28Open Targets
Arthrogryposis, distal, 1CUniProt
NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)Pathogenic
Distal arthrogryposis|Arthrogryposis, distal, type 1C
☆☆☆☆2022→ Residue 157
NM_013292.5(MYL11):c.470G>T (p.Cys157Phe)Pathogenic
Distal arthrogryposis|Arthrogryposis, distal, type 1C
☆☆☆☆2022→ Residue 157
NM_013292.5(MYL11):c.98C>T (p.Ala33Val)Pathogenic
Distal arthrogryposis|Arthrogryposis, distal, type 1C
☆☆☆☆2020→ Residue 33
NM_013292.5(MYL11):c.487G>A (p.Gly163Ser)Pathogenic
Distal arthrogryposis|Arthrogryposis, distal, type 1C
☆☆☆☆2020→ Residue 163