VPS37A
Function
Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.
Involvement in disease
Spastic paraplegia 53, autosomal recessive
SPG53
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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the VPS37 family.
Tissue Specificity
Widely expressed. Examined tissues include heart, brain, placenta, liver, skeletal muscle, kidney and pancreas. More abundant in liver. Strongly decreased or undetected in hepatomas.
Cellular localization
- Late endosome membrane
- Peripheral membrane protein
- Nucleus
Alternative names
HCRP1, VPS37A, Vacuolar protein sorting-associated protein 37A, hVps37A, ESCRT-I complex subunit VPS37A, Hepatocellular carcinoma-related protein 1