MYL11

Chr 16ADAR

myosin light chain 11

Also known as: DA1C, HUMMLC2B, MLC2B, MRLC2, MYLPF

NCBI Gene: 29895 ENSG00000180209 UniProt: Q96A32 OMIM: 617378

The protein is a myosin regulatory subunit that maintains muscle integrity during early development and facilitates muscle contraction through calcium ion binding. Mutations cause distal arthrogryposis type 1C, a congenital condition affecting the hands and feet with joint contractures present from birth. The gene shows high constraint against loss-of-function variants and demonstrates both autosomal dominant and autosomal recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Arthrogryposis, distal, type 1CMIM #619110

ADAR

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.52

LOEUF

Multiple*

Mechanism· predicted