GDAP1

GDAP1 is a gene that encodes the Ganglioside-induced differentiation-associated protein 1 in humans. This protein is a member of the ganglioside-induced differentiation-associated protein family and is known to play a crucial role in the mitochondrial network.

Function

The GDAP1 protein is involved in the regulation of the mitochondrial network. It is known to have a role in the mitochondrial fission and fusion, which are essential processes for maintaining the proper functioning and distribution of mitochondria in cells.

Clinical significance

Mutations in the GDAP1 gene are associated with a form of Charcot-Marie-Tooth disease, a group of hereditary disorders of the peripheral nervous system. Specifically, these mutations are linked to the autosomal recessive forms of Charcot-Marie-Tooth disease types 4A and 2K.

Genetics

The GDAP1 gene is located on the long (q) arm of chromosome 8 at position 21.1. The gene spans about 23.6 kilobases and consists of 6 exons.

See also

• Charcot-Marie-Tooth disease
• Mitochondrial dynamics
• Ganglioside

References

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External links

• NCBI Gene
• Genetics Home Reference

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