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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD