AGBL5: A Comprehensive Overview


AGBL5, also known as ATP/GTP binding protein like 5, is a protein-coding gene located on chromosome 15 in humans. It encodes a protein that belongs to the dynamin superfamily, which is involved in various cellular processes such as endocytosis, cell division, and mitochondrial dynamics.

Associated Diseases

Mutations in the AGBL5 gene have been linked to several human diseases, including:

  • Charcot-Marie-Tooth Disease Type 2K (CMT2K): An inherited neurological disorder characterized by progressive muscle weakness and atrophy in the legs and feet.
  • Scapuloperoneal Spinal Muscular Atrophy (SPSMA): A rare genetic disorder that affects the muscles of the shoulders, arms, and legs, leading to weakness and atrophy.
  • Infantile Epileptic Encephalopathy with Developmental and Epileptic Encephalopathy-66 (EIEE66): A severe neurodevelopmental disorder that manifests with seizures, developmental delays, and intellectual disability.

Did you Know ?

According to a study published in the journal "Annals of Neurology," approximately 1 in 100,000 individuals worldwide is affected by CMT2K, the most common disease associated with AGBL5 mutations.

Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.