fb08f03 antibody, fj42c03 antibody, zgc:73244 antibody, zgc:77637 antibody, wu:fb08f03 antibody, wu:fj42c03 antibody, HCRP1 antibody, PQBP2 antibody, SPG53 antibody, 2210018P21Rik antibody, 4930592A21Rik antibody, AW261445 antibody, D8Ertd531e antibody, vacuolar protein sorting 37A antibody, VPS37A, ESCRT-I subunit antibody, vacuolar protein sorting 37 homolog A antibody, vacuolar protein sorting 37 homolog A L homeolog antibody, vps37a antibody, VPS37A antibody, vps37a.L antibody, Vps37a antibody
Background
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.