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Catalog No. | A6674 |
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Product Name | NPHP1 Rabbit pAb |
Supplier Name | ABclonal, Inc. |
Brand Name | Abclonal |
Synonyms | NPH1; JBTS4; SLSN1 |
Gene Name | NPHP1 |
Protein Name | NPHP1 |
Uniprot/Swissprot ID | O15259 |
Entrez GeneID | 4867 |
Clonality | Polyclonal |
Source/Host | Rabbit |
Applications | WB, IHC-P, IF/ICC |
Reactivity | Human, Mouse, Rat |
Conjugate | Unconjugated |
Note | Products will be shipped from the warehouse in Massachusetts. Promotion is running from time to time. Welcome to send a request for quote to message@sydlabs.com. |
Order Offline | Syd Labs, Inc. 4 Avenue E, Hopkinton, MA 01748 USA. Phone: 1-617-401-8149 Fax: 1-617-606-5019 Email: message@sydlabs.com |
Description
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.
Additional information
Ship from Country | USA |
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Size | 20 ul, 100 ul, 200 ul, 50 ul |