AGTPBP1 (gene)

AGTPBP1 is a gene that encodes a protein in humans. This protein is known as ATP/GTP binding protein 1. The AGTPBP1 gene is located on the short (p) arm of chromosome 9 at position 13.3.

Function

The AGTPBP1 gene provides instructions for making a protein that is found in many tissues, including the brain, heart, and muscles. This protein is involved in the process of protein degradation, which is the breakdown of old or damaged proteins in cells. It is also thought to play a role in neurological function, although the exact mechanisms are not fully understood.

Clinical significance

Mutations in the AGTPBP1 gene have been associated with a rare neurological disorder known as Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ). This condition is characterized by delayed development, intellectual disability, and problems with movement and balance.

Research

Research into the AGTPBP1 gene and its associated protein is ongoing. Scientists are particularly interested in understanding how mutations in this gene lead to neurological disorders, and whether therapies could be developed to target these mutations.

See also

• Gene
• Protein degradation
• Cerebellar ataxia, mental retardation, and dysequilibrium syndrome