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Immunogen sequence: MPDVPDAFP ELSELSVSQL TDMNEQEEVL LEQFLTLPQL KQIITDKDDL VKSIEELARK NLLLEPSLEA KRQTVLDKYE LLTQMKSTFE KKMQRQHELS ESCSASALQA RLKVAAHEAE EESDNIAEDF LEGKMEIDDF LSSFMEKRTI CHCRRAKEEK LQQAIAMHSQ FHAPL (1-174 aa encoded by BC022363)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: ESCRT-I complex subunit VPS37A; Hepatocellular carcinoma-related protein 1; hVps37A; polyglutamine binding protein 2; vacuolar protein sorting 37 homolog A; Vacuolar protein sorting-associated protein 37A
Gene Aliases: HCRP1; PQBP2; SPG53; VPS37A
UniProt ID: (Human) Q8NEZ2
Entrez Gene ID: (Human) 137492
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