NPHP1

gene product
JBTS4, NPH1, SLSN1
This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
More gene data

Featured antibodies

Antibodies

 

Filters

Application

Antibodypedia Validation Initiative

Validation method

Reference

Provider

Host

Reactivity

Antibody type

Conjugate

  or   Clear
Enhanced validation
Supportive data in Antibodypedia
Data presented on provider website
Data in Antibodypedia (inconclusive)
Recommended by provider
Validated within AVI
Eligible for validation within AVI
139 antibodies from 23 providers.

Antibody properties

General

Applications

or Cancel
AntibodyRefsTypeWBELICCIPIHCFC
Biorbyt
12 antibodies
Bioworld Technology, Inc
2 antibodies
NovoPro Bioscience Inc.
1 antibody
antibodies-online
46 antibodies
LifeSpan BioSciences, Inc.
15 antibodies
Abnova Corporation
6 antibodies
GeneTex
3 antibodies
St John's Laboratory
2 antibodies
Abbkine Scientific Co.Ltd.
1 antibody
Affinity Biosciences
1 antibody
Acris Antibodies GmbH
1 antibody
Novus Biologicals
4 antibodies
OriGene
2 antibodies
Invitrogen Antibodies
3 antibodies
Atlas Antibodies
1 antibody
Aviva Systems Biology
1 antibody
United States Biological
24 antibodies
MyBioSource
5 antibodies
Abbexa
3 antibodies
Creative Diagnostics
3 antibodies
GenWay
1 antibody
Exalpha Biologicals, Inc.
1 antibody
Sigma-Aldrich
1 antibody