Product info:

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene.

Alternative names:

NPHP1; JBTS4; NPH1; SLSN1

Species reactivity:

Human, Mouse, Rat

Host:

Rabbit

Cellular localisation:

Cell junction, Cell projection, Cytoplasm, adherens junction, cilium, cilium axoneme, cytoskeleton, tight junction

Isotype:

IgG

Immunogen:

Recombinant fusion protein containing a sequence corresponding to amino acids 345-614 of human NPHP1 (NP_001121651.1).

Positive control:

PC-3, Mouse pancreas, Rat skeletal muscle, Rat brain

AA Sequence:

PDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV

Purification:

Affinity purification

Molecular weight:

Calculated MW: 69kDa/77kDa/83kDa Observed MW: 83KDa

Form:

Liquid

Applications:

Request info at info@sobekbio.com

Dilution:

WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200

Storage buffer:

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Storage:

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

More info:

Email: info@sobekbio.com

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