NPHP1 Antibodies, cDNA Clones Research Reagents

NPHP1 (Nephrocystin 1, also known as NPH1; JBTS4; SLSN1), located on 2q13, is a Protein Coding gene. This gene encodes a protein with src homology domain 3 (SH3) patterns. The gene produces an 83299 Da protein composed of 732 amino acids. NPHP1 harbors an SH3 domain flanked by two glutamic acid-rich regions and a conserved C-terminal nephrocystin homology domain (NHD). Its N-terminus contains a putative coiled-coil domain (NPHP1CC) that is supposed to play an important role in NPHP1 self-association and/or protein-protein interactions. Diseases such as Senior-Loken Syndrome 1 and Joubert Syndrome 4 are associated with NPHP1.

NPHP1 Antibody (1)

    NPHP1 cDNA Clone (17)

    BC062574

    クローニングベクター cDNA 製品

    In lentiviral vector

    XM_006234961.2

    クローニングベクター cDNA 製品

    In lentiviral vector

    NPHP1 qPCR Primer (1)

    NPHP1 の背景知識

    NPHP1, the gene that encodes the protein nephrocystin-1 has been identified to be mutated in Juvenile Nephronophthisis, an autosomal recessive cystic kidney disorder that is the most frequent genetic cause of the end-stage renal disease (ESRD) in children and young adults. NPHP1 is the major subtype leading to pediatric end-stage renal disease (ESRD). Reports of adult NPHP1 are rare. NPHP1 presents a modular structure well in keeping with its role as an adaptor protein: it harbors an SH3 domain flanked by two glutamic acid-rich regions and a conserved C-terminal nephrocystin homology domain (NHD). Similar to other NPHP protein family members, its N-terminus contains a putative coiled-coil domain (NPHP1CC) that is supposed to play an important role in NPHP1 self-association and/or protein-protein interactions.

    NPHP1 の参考文献

    • Wang Y, et al. (2019) Two novel homozygous mutations in nphp1 lead to late onset end-stage renal disease: A case report of an adult nephronophthisis in a chinese intermarriage family. BMC Nephrol 20 (1): 173.
    • Mannella V, et al. (2019) The n-terminal domain of nphp1 folds into a monomeric left-handed antiparallel three-stranded coiled coil with anti-apoptotic function. ACS Chem Biol 14 (8): 1845-1854.
    • Devi AN, et al. (2015) Expression profiles of nphp1 in the germ cells in the semen of men with male factor infertility. Andrology 3 (4): 685-693.

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