VPS33B Late Endosome and Lysosome Associated

Alternative Names

  • VPS33B
  • Vacuolar Protein Sorting 33, Yeast, Homolog of, B
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OMIM Number

608552

NCBI Gene ID

26276

Uniprot ID

Q9H267

Length

24206 bases

No. of Exons

24

No. of isoforms

2

Protein Name

Vacuolar protein sorting-associated protein 33B

Molecular Mass

70585Da

Amino Acid Count

617

Genomic Location

chr15:90998416-91022621

Gene Map Locus
15q26.1

Description

VPS33B gene is a member of the Sec-1 domain family and encodes vacuolar protein sorting-associated protein 33B. VPS33B protein, a homolog of yeast class C Vps33 protein, is considered to be involved in vesicle-mediated protein trafficking, membrane fusion of late endosomes/lysosomes, endosomal maturation, and the apical recycling pathway.

Mutations in VPS33B gene result in abnormal intracellular protein trafficking and cause arthrogryposis-renal dysfunction-cholestasis 1.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018668.4:c.1312C>TSaudi ArabiaNC_000015.10:g.91002143G>APathogenicLikely PathogenicArthrogryposis, Renal Dysfunction, and Cholestasis 1NG_012162.1:g.25461C>T; NM_018668.4:c.1312C>T; NP_061138.3:p.Arg438Ter1214343842202
NM_018668.4:c.1406-2A>GSaudi ArabiaNC_000015.10:g.91001464T>CUncertain SignificanceArthrogryposis, Renal Dysfunction, and Cholestasis 1NG_012162.1:g.26140A>G; NM_018668.4:c.1406-2A>G
NM_018668.4:c.350delSaudi ArabiaNC_000015.10:g.91013813delPathogenicLikely PathogenicArthrogryposis, Renal Dysfunction, and Cholestasis 1NG_012162.1:g.13793del; NM_018668.4:c.350del; NP_061138.3:p.Pro117fs1555459968523950
NM_018668.4:c.403+1G>APalestineNC_000015.10:g.91009800C>TUncertain SignificanceArthrogryposis, Renal Dysfunction, and Cholestasis 1NG_012162.1:g.17804G>A; NM_018668.4:c.403+1G>A953811940
NM_018668.4:c.700+1G>ASaudi ArabiaNC_000015.10:g.91006949C>TPathogenicLikely PathogenicArthrogryposis, Renal Dysfunction, and Cholestasis 1NG_012162.1:g.20655G>A; NM_018668.4:c.700+1G>A7947266582204
NM_018668.5:c.1019dupLebanonchr15:91005705Likely PathogenicArthrogryposis, Renal Dysfunction, and Cholestasis 1NG_012162.1:g.21899dup; NM_018668.5:c.1019dup; NP_061138.3:p.Leu340fs
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