Adaptor-Related Protein Complex 3, Beta-1 Subunit

Alternative Names

  • AP3B1
  • Adaptin, Beta-3A
  • ADTB3A
  • HPS2 Gene
  • HPS2
  • Pearl, Mouse, Homolog of
  • PE
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OMIM Number

603401

NCBI Gene ID

8546

Uniprot ID

O00203

Length

294,183 bases

No. of Exons

29

No. of isoforms

2

Protein Name

AP-3 complex subunit beta-1

Molecular Mass

121320 Da

Amino Acid Count

1094

Genomic Location

chr5:78,000,521-78,294,703

Gene Map Locus
5q14.1

Description

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003664.5:c.32A>GUnited Arab EmiratesNC_000005.10:g.78294548T>CUncertain SignificanceUncertain SignificanceNG_007268.1:g.5157A>G; NM_003664.5:c.32A>G; NP_003655.3:p.Gln11Arg764312417839408
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