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Gene : NPHP4 Homo sapiens

Name  ? nephrocystin 4 Cytological Location  1p36.31
Brief Description  nephrocystin 4
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. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
  • synonyms:
  • POC10,
  • nephronophthisis 4,
  • POC10,
  • nephroretinin,
  • AB014573,
  • OTTHUMG00000000701,
  • POC10 centriolar protein homolog (Chlamydomonas),
  • SLSN4,
  • HGNC:19104,
  • KIAA0673,
  • uc001alq.3,
  • SLSN4,
  • NM_001291593,
  • NPHP4
  • identifiers:
  • 261734,
  • ENSG00000131697,
  • NPHP4

Genome feature

Region: gene ? Length: 129666  
Location: 1:5862808-5992473 reverse strand Cyto location: 1p36.31


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Proteins

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Disease

2 Diseases

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Expression

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2011 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results