ANXA11
Domain
A pair of annexin repeats may form one binding site for calcium and phospholipid.
Function
Binds specifically to calcyclin in a calcium-dependent manner (By similarity). Required for midbody formation and completion of the terminal phase of cytokinesis.
Involvement in disease
Amyotrophic lateral sclerosis 23
ALS23
A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS23 is an autosomal dominant form with incomplete penetrance.
None
The disease is caused by variants affecting the gene represented in this entry.
Inclusion body myopathy and brain white matter abnormalities
IBMWMA
An autosomal dominant, adult-onset disorder characterized predominantly by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging. Additional features may include dysarthria, dysphagia, low back pain, and hyporeflexia. Muscle biopsy shows fiber type variation, internal nuclei, rimmed vacuoles, and cytoplasmic protein aggregates or inclusions. Cognitive impairment or frontotemporal dementia occurs in some patients.
None
The gene represented in this entry is involved in disease pathogenesis.
Sequence Similarities
Belongs to the annexin family.
Cellular localization
- Cytoplasm
- Melanosome
- Nucleus envelope
- Nucleus
- Nucleoplasm
- Cytoplasm
- Cytoskeleton
- Spindle
- Found throughout the nucleoplasm at interphase and during mitosis concentrates around the mitotic apparatus (By similarity). Elevation of intracellular calcium causes relocalization from the nucleoplasm to the nuclear envelope, with little effect on the cytoplasmic pool. Localization to the nuclear envelope is cell-cycle dependent.
Alternative names
ANX11, ANXA11, Annexin A11, 56 kDa autoantigen, Annexin XI, Annexin-11, Calcyclin-associated annexin 50, CAP-50