Acts as an osmosensitive cation channel preferentially activated upon hypotonic stress (PubMed:24503647, PubMed:35718349). Enriched in mitochondria-ER contact sites where it may regulate the metabolite flux and organelles' morphologies in response to osmotic changes. In particular may regulate mitochondrial motility and function in motor neuron axons (PubMed:35718349). Required for the functional integrity of the kidney glomerular filtration barrier.
Spastic paraplegia 87, autosomal recessive
SPG87
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG87 is characterized by onset of lower limb spasticity in infancy or early childhood, and lack of upper limbs and bulbar regions involvement. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia. Some patients may also have mild intellectual disability or speech problems.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the CSC1 (TC 1.A.17) family.
Expressed in podocytes of kidney glomeruli (PubMed:30900988). Significantly reduced expression in patients with focal segmental glomerulosclerosis (PubMed:30900988).
C14orf171, CSC1, TMEM63C, Calcium permeable stress-gated cation channel 1, Transmembrane protein 63C
Proteins
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