VPS37A cDNA Clone – Vacuolar Protein Sorting 37 Homolog A (S. Cerevisiae) (Human)

This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

VPS37A: 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. Defects in VPS37A are a cause of autosomal recessive complex hereditary spastic paraparesis, a complicated form of hereditary spastic paraplegia (HSP). HSP is a heterogeneous group of neurodegenerative disorders characterized by progressive lower limb spasticity, retrograde degeneration of the crossed cortico- spinal tracts and thinning of the posterior columns in the spinal cord. Complicated forms are characterized by the addition of such neurological features as spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations such as dysmorphism, albinism, retinitis pigmentosa, deafness, dementia, amyotrophy and ichthyosis. Individuals with VPS37A mutations present with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis. Belongs to the VPS37 family. 3 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 8p22

Cellular Component: centrosome; cytoplasm; endosome membrane; intracellular membrane-bound organelle; nucleoplasm

Molecular Function: protein binding

Biological Process: autophagy; endosome transport; ubiquitin-dependent protein catabolic process via the multivesicular body pathway; viral infectious cycle

Disease: Spastic Paraplegia 53, Autosomal Recessive