INVS cdna clone
INVS cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
Uniprot Description
INVS: Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Defects in INVS are the cause of nephronophthisis type 2 (NPHP2); also known as infantile nephronophthisis. NPHP2 is an autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes and by the presence of cortical microcysts. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 9q31
Molecular Function: protein binding
Disease: Nephronophthisis 2
Research Articles on INVS
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Product Notes
The INVS invs (Catalog #AAA1272432) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgaacaagt cagagaacct gctgtttgct ggttcatcat tagcatcaca agtccatgct gctgccgtta atggagataa gggtgctcta cagaggctca tcgtaggaaa ctctgctctt aaagacaaag aagatcagtt tgggagaaca ccacttatgt attgcgtgtt ggctgacaga ttggattgtg cagatgctct tctgaaggca ggagcagatg tgaataaaac tgaccatagc cagagaacag ccctccatct tgcagcccag aaggcattga gaacaatcag cacaggcagg atctaa. It is sometimes possible for the material contained within the vial of "INVS, cDNA Clone" 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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