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VPS37A 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.
Gene Name: | vacuolar protein sorting 37 homolog A (S. cerevisiae) |
Synonyms: | VPS37A, HCRP1, HVps37A, Vacuolar protein sorting 37A, ESCRT-I complex subunit VPS37A, PQBP2, SPG53 |
Target Sequences: | AAH67754.1 Q8NEZ2 |
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