免疫原
Synthesized peptide derived from part region of human protein
特异性
INVS Monoclonal Antibody detects endogenous levels of protein.
组成（Formulation）
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景（Background）
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],
功能
disease:Defects in INVS are the cause of nephronophthisis type 2 (NPHP2) [MIM:602088]; 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.,domain:The D-box 1 (destruction box 1) mediates the interaction with APC2, and may act as a recognition signal for degradation via the ubiquitin-proteasome pathway.,function:Required for normal renal development and establishment of left-right axis. Probably acts as a molecular
基因名称（Gene Name）
INVS INV NPHP2
蛋白名称
Inversin (Inversion of embryo turning homolog) (Nephrocystin-2)
Fields
>>Wnt signaling pathway
细胞定位
Cytoplasm . Cytoplasm, cytoskeleton . Cytoplasm, cytoskeleton, spindle . Membrane ; Peripheral membrane protein . Nucleus . Cell projection, cilium . Associates with several components of the cytoskeleton including ciliary, random and polarized microtubules. During mitosis, it is recruited to mitotic spindle. Frequently membrane-associated, membrane localization is dependent upon cell-cell contacts and is redistributed when cell adhesion is disrupted after incubation of the cell monolayer with low-calcium/EGTA medium.
组织表达
Widely expressed. Strongly expressed in the primary cilia of renal tubular cells.
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