Product Name
NPHP4, cDNA Clone
Full Product Name
NPHP4 cDNA Clone
Product Gene Name
NPHP4 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgaacgact ggcacaggat cttcacccaa aacgtgcttg tccctcccca cccacagaga gcgcgccagc cttggaagga atccacggca ttccagtgtg tcctcaagtg gctggacgga ccggtaatta ggcagggcgt gctggaggta ctgtcagagg ttgaatgcca tctgcgagtg tctttctttg atgtcaccta ccggcacttc tttgggagga cgtggaaaac cacagtgaag ccgacgaaga gaccgccgtc caggatcgtc tttaatgagc ccttgtattt tcacacatcc ctaaaccacc ctcatatcgt ggctgtggtg gaagtggtcg ctgagggcaa gaaacgggat gggagcctcc agacattgtc ctgtgggttt ggaattcttc ggatcttcag caaccagccg gactctccta tctctgcttc ccaggacaaa aggttgcggc tgtaccatgg cacccccaga gccctcctgc acccgcttct ccaggacccc gcagagcaaa acagacacat gaccctcatt gagaactgca gcctgcagta cacgctgaag ccacacccgg ccctggagcc tgcgttccac cttcttcctg agaaccttct ggtgtctggt ctgcagcaga tacctggcct gcttccagct catggagaat ccggcgacgc tctccgaaag cctcgcctcc agaagcccat cacggggcac ttggatgact tattcttcac cctgtacccc tccctggaga agtttgagga agagctgctg gagctccacg tccaggacca cttccaggag ggatgtggcc cactggacgg tggtgccctg gagatcctgg agcggcgcct gcgtgtgggc gtgcacaatg gtctgggctt cgtgcagagg ccgcaggtcg ttgtactggt gcctgagatg gatgtggcct tgacgcgctc agctagcttc agcaggaaag tggtctcctc ttccaagacc agctccggga gccaagctct ggttttgaga agccgcctcc gcctcccaga gatggtcggc caccctgcat ttgcggtcat cttccagctg gagtacgtgt tcagcagccc tgcaggagtg gacggcaatg cagcttcggt cacctctctg tccaacctgg catgcatgca catggtccgc tgggctgttt ggaacccctt gctggaagct gattctggaa gggtgaccct gcctctgcag ggtgggatcc agcccaaccc ctcgcactgt ctggtctaca aggtaccctc agccagcatg agctctgaag aggtgaagca ggtggagtcg ggtacactcc ggttccagtt ctcgctgggc tcagaagaac acctggatgc acccacggag cctgtcagtg gccccaaagt ggagcggcgg ccttccagga aaccacccac gtccccttcg agcccgccag cgccagtacc tcgagttctc gctgccccgc agaactcacc tgtgggacca gggttgtcaa tttcccagct ggcggcctcc ccgcggtccc cgactcagca ctgcttggcc aggcctactt cacagctacc ccatggctct caggcctccc cggcccaggc agagttcccg ttggaggccg gtatctccca cctggaagcc gacctgagcc agacctccct ggtcctggaa acatccattg ccgaacagtt acaggagctg ccgttcacgc ctttgcatgc ccctattgtt gtgggaaccc agaccaggag ctctgcaggg cagccctcga gagcctccat ggtgctcctg cagtcctccg gctttcccga gattctggat gccaataaac agccagccga ggctgtcagc gctacagaac ctgtgacgtt taaccctcag aaggaagaat cagattgtct acaaagcaac gagatggtgc tacagtttct tgcctttagc agagtggccc aggactgccg aggaacatca tggccaaaga ctgtgtattt caccttccag ttctaccgct tcccacccgc aacgacgcca cgactgcagc tggtccagct ggatgaggcc ggccagccca gctctggcgc cctgacccac atcctcgtgc ctgtgagcag agatggcacc tttgatgctg ggtctcctgg cttccagctg aggtacatgg tgggccctgg gttcctgaag ccaggtgagc ggcgctgctt tgcccgctac ctggccgtgc agaccctgca gattgacgtc tgggacggag actccctgct gctcatcgga tctgctgccg tccagatgaa gcatctcctc cgccaaggcc ggccggctgt gcaggcctcc cacgagcttg aggtcgtggc aactgaatac gagcaggaca acatggtggt gagtggagac atgctggggt ttggccgcgt caagcccatc ggcgtccact cggtggtgaa gggccggctg cacctgactt tggccaacgt gggtcacccg tgtgaacaga aagtgagagg ttgtagcaca ttgccaccgt ccagatctcg ggtcatctca aacgatggag ccagccgctt ctctggaggc agcctcctca cgactggaag ctcaaggcgc tgggctctgc aggcgactgt gctgtttgga gaagtgggaa ccctgccagt ggcatttgtg tctggttggc tgctcatctg caagggaagg agaaatggag agaaggtcag gaggaacata gactga
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of NPHP4 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for NPHP4. It may not necessarily be applicable to this product.
NCBI Accession #
BC040520
[Other Products]
UniProt Secondary Accession #
Q8IWC0[Other Products]
UniProt Related Accession #
O75161[Other Products]
Molecular Weight
99,953 Da
NCBI Official Full Name
Homo sapiens nephronophthisis 4, mRNA
NCBI Official Synonym Full Names
nephrocystin 4
NCBI Official Symbol
NPHP4??[Similar Products]
NCBI Official Synonym Symbols
POC10; SLSN4
??[Similar Products]
NCBI Protein Information
nephrocystin-4
UniProt Protein Name
Nephrocystin-4
UniProt Synonym Protein Names
Nephroretinin
Protein Family
Nephrocystin
UniProt Gene Name
NPHP4??[Similar Products]
UniProt Synonym Gene Names
KIAA0673??[Similar Products]
UniProt Entry Name
NPHP4_HUMAN
NCBI Summary for NPHP4
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
UniProt Comments for NPHP4
NPHP4: Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Defects in NPHP4 are the cause of nephronophthisis type 4 (NPHP4); also known as familial juvenile nephronophthisis 4. NPHP4 is an autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome. Defects in NPHP4 are the cause of Senior-Loken syndrome type 4 (SLSN4). SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Belongs to the NPHP4 family.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 1p36
Cellular Component: centrosome; cytosol; intercellular junction; membrane
Molecular Function: protein binding
Disease: Nephronophthisis 4; Senior-loken Syndrome 4
Research Articles on NPHP4
1. homozygous NPHP4 truncating mutation that expands the phenotypic spectrum of NPHP4-related nephronophthisis to also include cerebello-oculo-renal syndrome and abnormal spermatogenesis causing male infertility
Precautions
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Disclaimer
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