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RAB33B

From Wikipedia, the free encyclopedia
RAB33B
Identifiers
AliasesRAB33B, SMC2, member RAS oncogene family
External IDsOMIM: 605950; MGI: 1330805; HomoloGene: 9642; GeneCards: RAB33B; OMA:RAB33B - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_031296

NM_016858

RefSeq (protein)

NP_112586

NP_058554

Location (UCSC)Chr 4: 139.45 – 139.48 MbChr 3: 51.39 – 51.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ras-related protein Rab-33B is a protein that in humans is encoded by the RAB33B gene.[5]

Mutations in this gene have been associated to cases of Dyggve-Melchior-Clausen syndrome.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172007Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027739Ensembl, 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. ^ "RAB33B, member RAS oncogene family".
  6. ^ Alshammari MJ, Al-Otaibi L, Alkuraya FS (May 2012). "Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve-Melchior-Clausen locus". J Med Genet. 49 (7): 455–61. doi:10.1136/jmedgenet-2011-100666. PMID 22652534. S2CID 206997124.

Further reading

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