Product Name	NPHP3
Chinese Name	NPHP3蛋白抗体
Alias	Meckel syndrome, type 7; MKS7; Nephrocystin-3; nephronophthisis 3 (adolescent); NPH3; Nphp3; NPHP3_HUMAN; pcy; RHPD.
Research Area	Cell biology  Developmental biology  Signal transduction
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Pig, Cow, Horse, Sheep, )
Applications	ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （Paraffin sections need antigen repair） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	150kDa
Cellular localization	The nucleus
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human NPHP3: 131-230/1330
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011] Function: Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. Subcellular Location: Cell projection; cilium. Tissue Specificity: Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung. DISEASE: Defects in NPHP3 are the cause of nephronophthisis type 3 (NPHP3) [MIM:604387]; also known as adolescent nephronophthisis. NPHP3 is a autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. Defects in NPHP3 are a cause of renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]. RHPD is an autosomal recessive disorder with variable expression, and patients surviving the neonatal period progress to renal and hepatic failure which can be treated successfully with combined liver-kidney transplantation. Defects in NPHP3 are the cause of Meckel syndrome type 7 (MKS7) [MIM:267010]. It is a form of Meckel syndrome, an autosomal recessive disorder. It is characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Similarity: Contains 11 TPR repeats. SWISS: Q7Z494 Gene ID: 27031 Database links: Entrez Gene: 27031 Human Omim: 608002 Human SwissProt: Q7Z494 Human Unigene: 511991 Human

Cartpieces

• 
• 1

  1Delete

• 
• 5

  5Delete

• 
• S

  SDelete

• 
• R

  RDelete

• 
• +

  +Delete

• 
• 2

  2Delete

• Delete

• Delete

• 
• 1

  1Delete

• 
• 1

  1Delete

• 
• $

  $Delete

• 
• 0

  0Delete

• 
• 4

  4Delete

• 
• $

  $Delete

• 
• 0

  0Delete

• 
• 0

  0Delete

• 
• 1

  1Delete

• 
• M

  MDelete

• 
• M

  MDelete

• 

• Delete

• 
• i

  iDelete

• 
• i

  iDelete

• Delete

• 
• 1

  1Delete

• Delete

• 
• 1

  1Delete

• 
• 1

  1Delete

• 
• 0

  0Delete

• Delete

• 
• 2

  2Delete

• 
• 1

  1Delete

• 
• 0

  0Delete

• 
• 0

  0Delete

• 
• 0

  0Delete

• 
• 0

  0Delete

• 
• 0

  0Delete

• 
• 0

  0Delete

• 
• 1

  1Delete

• 
• 1

  1Delete

• Delete

• 
• -

  -Delete

• 
• -

  -Delete

• 
• 0

  0Delete

• Delete

• 
• t

  tDelete

• 
• 0

  0Delete

• 
• 0

  0Delete

• 
• 0

  0Delete

• 
• f

  fDelete

• Delete

• Delete

• Delete

• Delete

• Delete

• Delete

• Delete

• Delete

• Delete

• Delete

• Delete

• Delete

• Delete

• Delete

• 
• 4

  4Delete

• 
• $

  $Delete

• Delete

• 
• 0

  0Delete

• Delete

• Delete

• Delete

• 
• R

  RDelete

• 
• 5

  5Delete

• 
• A

  ADelete

Totalgoods,subtotals:￥Checkout