GDAP1
Description
The GDAP1 (ganglioside induced differentiation associated protein 1) is a protein-coding gene located on chromosome 8.
GDAP1, or Ganglioside-induced differentiation-associated protein 1, is a protein encoded by the GDAP1 gene in humans. It belongs to the ganglioside-induced differentiation-associated protein family and may play a role in neuronal development signal transduction. Mutations in the GDAP1 gene have been linked to various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants, encoding different isoforms, have been identified for this gene.
GDAP1 regulates the mitochondrial network by promoting mitochondrial fission.
GDAP1 is also known as CMT4, CMT4A, CMTRIA.
Associated Diseases
- Charcot-Marie-Tooth disease, type 4A
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive
- Charcot-Marie-Tooth disease, axonal, type 2K
- Charcot-Marie-Tooth disease, recessive intermediate A
