Nephrocystin 4

Alternative Names

  • NPHP4
  • KIAA0673
  • Nephroretinin

Associated Diseases

Senior-Loken Syndrome 4
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OMIM Number

607215

NCBI Gene ID

261734

Uniprot ID

O75161

Length

129,698 bases

No. of Exons

37

No. of isoforms

2

Protein Name

Nephrocystin-4

Molecular Mass

157598 Da

Amino Acid Count

1426

Genomic Location

chr1:5,862,809-5,992,424

Gene Map Locus
1p36.31

Description

This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015102.5:c.673G>TSaudi Arabiachr1:5961794PathogenicSenior-Loken Syndrome 4NG_011724.2:g.35678G>T; NM_015102.5:c.673G>T; NP_055917.1:p.Gly225Cys540402276
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