ANXA11

Annexin A11 is a calcium-responsive, peripheral phospholipid-binding protein with a long low-complexity N-terminal region and a C-terminal annexin-repeat domain. It associates dynamically with nuclear, cytoplasmic and membrane compartments, forms condensates, and couples ribonucleoprotein granules to lysosomal membranes. ALG-2 and S100A6 modulate its membrane-associated condensates, and it recruits sorcin to damaged plasma membrane during repair. In dividing human cells it is a stable component of the midbody and contributes to completion of cytokinesis. Pathogenic ANXA11 variants are associated with amyotrophic lateral sclerosis and can perturb protein assembly and intracellular trafficking.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.