Solute Carrier Family 39 (Zinc Transporter), Member 8

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Alternative Names

  • SLC39A8
  • BIGM103
  • ZIP8

Associated Diseases

Congenital Disorder of Glycosylation, Type IIn
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OMIM Number

608732

NCBI Gene ID

64116

Uniprot ID

Q9C0K1

Length

180,218 bases

No. of Exons

16

No. of isoforms

3

Protein Name

Metal Cation Symporter ZIP8

Molecular Mass

49631 Da

Amino Acid Count

460

Genomic Location

chr4:102,251,040-102,345,481

Gene Map Locus
4q24

Description

This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022154.5:c.338G>CLebanonchr4:102315712Likely PathogenicPathogenicCongenital Disorder of Glycosylation, Type IInNG_047177.1:g.34787G>C; NM_022154.5:c.338G>C; NP_071437.3:p.Cys113Ser1444255127869411
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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC39A8

Contributors

  • Sayeeda Hana: 27.05.2020

Edit History

  • Sayeeda Hana: 27.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.