Solute Carrier Family 30 (Zinc Transporter), Member 8

Alternative Names

  • SLC30A8
  • Zinc Transporter 8
  • ZNT8
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OMIM Number

611145

NCBI Gene ID

169026

Uniprot ID

Q8IWU4

Length

226,535 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Zinc transporter 8

Molecular Mass

40755 Da

Amino Acid Count

369

Genomic Location

chr8:116,950,180-117,176,714

Gene Map Locus
8q24.11

Description

The protein encoded by SLC30A8 gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. SLC30A8 is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist, which confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001172811.1:c.*105G>TLebanonNC_000008.11:g.117172786G>TNM_001172811.1:c.*105G>T; NP_001166282.1:p.?3802177
NM_173851.3:c.973C>TTunisiaNC_000008.11:g.117172544C>TRisk factorDiabetes Mellitus, Noninsulin-DependentNG_016991.1:g.227272C>T; NM_173851.3:c.973C>T; NP_776250.2:p.Arg325Trp132666341000
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