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VPS37A

From Wikipedia, the free encyclopedia
VPS37A
Identifiers
AliasesVPS37A, HCRP1, PQBP2, SPG53, ESCRT-I subunit
External IDsOMIM: 609927; MGI: 1261835; HomoloGene: 45120; GeneCards: VPS37A; OMA:VPS37A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001145152
NM_152415

NM_033560

RefSeq (protein)

NP_291038

Location (UCSC)Chr 8: 17.25 – 17.3 MbChr 8: 40.51 – 40.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Vacuolar protein sorting 37 homolog A (S. cerevisiae) is a protein in humans that is encoded by the VPS37A gene.[5] It is a member of the endosomal sorting complex required for transport (ESCRT) system.[6]

Clinical significance

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A missense mutation (K382N) in VPS37A protein has been shown to cause complex hereditary spastic paraparesis (cHSP).[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000155975Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031600Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Vacuolar protein sorting 37 homolog A (S. cerevisiae)". Retrieved 2012-04-20.
  6. ^ Bache KG, Slagsvold T, Cabezas A, Rosendal KR, Raiborg C, Stenmark H (September 2004). "The growth-regulatory protein HCRP1/hVps37A is a subunit of mammalian ESCRT-I and mediates receptor down-regulation". Mol. Biol. Cell. 15 (9): 4337–46. doi:10.1091/mbc.E04-03-0250. PMC 515363. PMID 15240819.
  7. ^ Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC (June 2012). "A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis". J Med Genet. 49 (7): 462–72. doi:10.1136/jmedgenet-2012-100742. PMID 22717650. S2CID 30471834.

Further reading

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