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PMID:15924139

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Citation

Reiser, J, Polu, KR, Möller, CC, Kenlan, P, Altintas, MM, Wei, C, Faul, C, Herbert, S, Villegas, I, Avila-Casado, C, McGee, M, Sugimoto, H, Brown, D, Kalluri, R, Mundel, P, Smith, PL, Clapham, DE and Pollak, MR (2005) TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat. Genet. 37:739-44

Abstract

Progressive kidney failure is a genetically and clinically heterogeneous group of disorders. Podocyte foot processes and the interposed glomerular slit diaphragm are essential components of the permeability barrier in the kidney. Mutations in genes encoding structural proteins of the podocyte lead to the development of proteinuria, resulting in progressive kidney failure and focal segmental glomerulosclerosis. Here, we show that the canonical transient receptor potential 6 (TRPC6) ion channel is expressed in podocytes and is a component of the glomerular slit diaphragm. We identified five families with autosomal dominant focal segmental glomerulosclerosis in which disease segregated with mutations in the gene TRPC6 on chromosome 11q. Two of the TRPC6 mutants had increased current amplitudes. These data show that TRPC6 channel activity at the slit diaphragm is essential for proper regulation of podocyte structure and function.

Links

PubMed PMC1360984 Online version:10.1038/ng1592

Keywords

Adolescent; Adult; Calcium Channels/genetics; Calcium Channels/metabolism; Calcium Channels/physiology; Cells, Cultured; Chromosomes, Human, Pair 11/genetics; Glomerulosclerosis, Focal Segmental/genetics; Glomerulosclerosis, Focal Segmental/pathology; Humans; Kidney Glomerulus/metabolism; Kidney Glomerulus/pathology; Microscopy, Immunoelectron; Middle Aged; Mutation; Pedigree; TRPC Cation Channels

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:TRPC6

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

PR:Q91X05
PR:Q9QZS7

F

Seeded From UniProt

complete

MOUSE:TRPC6

located_in

GO:0036057: slit diaphragm

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000653)
  • part_of:(EMAPA:28239)

Seeded From UniProt

complete

MOUSE:TRPC6

located_in

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000653)

Seeded From UniProt

complete

MOUSE:PODO

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

PR:Q61143

F

Seeded From UniProt

complete

MOUSE:PODO

located_in

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000653)

Seeded From UniProt

complete

MOUSE:CD2AP

located_in

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000653)

Seeded From UniProt

complete

MOUSE:NPHN

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

PR:Q61143

F

Seeded From UniProt

complete

MOUSE:NPHN

located_in

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000653)

Seeded From UniProt

complete

MOUSE:TRPC6

part_of

GO:0036057: slit diaphragm

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(EMAPA:28239)
  • part_of:(CL:0000653)

Seeded From UniProt

complete

MOUSE:TRPC6

part_of

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

part_of:(CL:0000653)

Seeded From UniProt

complete


See also

References

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