WD repeat-containing and planar cell polarity effector protein fritz homolog Recombinant Protein | FRITZ recombinant protein
Recombinant mouse WD repeat-containing and planar cell polarity effector protein fritz homolog
NCBI and Uniprot Product Information
Uniprot Description
LOC51057: Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Defects in WDPCP are the cause of Bardet-Biedl syndrome type 15 (BBS15). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. Mutations in WDPCP may act as modifiers of the phenotypic expression of Bardet-Biedl syndrome and Meckel syndrome by interacting in trans with primary BBS and MKS loci. Belongs to the WD repeat fritz family. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 11 A3.1|11 13.9 cM
Molecular Function: protein binding
Biological Process: auditory receptor cell morphogenesis; camera-type eye development; embryonic digit morphogenesis; embryonic organ development; establishment of protein localization; kidney development; nervous system development; palate development; regulation of focal adhesion formation; smoothened signaling pathway
Research Articles on FRITZ
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Product Notes
The FRITZ wdpcp (Catalog #AAA9421250) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 39-760aa. The Recombinant mouse WD repeat-containing and planar cell polarity effector protein fritz homolog reacts with Mouse and may cross-react with other species as described in the data sheet. It is sometimes possible for the material contained within the vial of "WD repeat-containing and planar cell polarity effector protein fritz homolog, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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