coiled-coil-helix-coiled-coil-helix domain containing 10
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.
Covered on Genetics Home Reference:
From NCBI Gene:
- Myopathy, isolated mitochondrial, autosomal dominant
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
- Spinal muscular atrophy, jokela type
Spinal muscular atrophy, Jokela type (SMAJ): An autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life. [MIM:615048]
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2): A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. [MIM:615911]
Myopathy, isolated mitochondrial, autosomal dominant (IMMD): A mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. [MIM:616209]