• INVS Polyclonal Antibody
1 1

Upingbio

YP-Ab-05681-100UL

INVS Polyclonal Antibody

INVS Polyclonal Antibody

Size
  • Gene Name: INVS INV NPHP2
  • Immunogen: Synthesized peptide derived from part region of human protein
  • Specificity: INVS Polyclonal Antibody detects endogenous levels of protein.
  • Composition: Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
  • Source: Polyclonal, Rabbit,IgG
  • Dilution ratio: WB 1:500-2000 ELISA 1:5000-20000
  • Purification process: The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • Concentration: 1 mg/ml
  • Storage: -20°C/1 year
  • 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],
  • Function: 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
  • Species: Human;Mouse
  • Range: WB;ELISA
  • Protein: Inversin (Inversion of embryo turning homolog) (Nephrocystin-2)
  • DA: 117kD
전체 세부 정보 보기