Product Datasheet
NPHP3 Polyclonal Antibody
Catalog Number: 31606
Technical:tech@swbio.com
Information:info@swbio.com
Description
- Swiss-Prot No.:
- Swiss-Prot#:Q7Z494
NCBI Gene ID:27031
- Form of Antibody:
- Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.
- Immunogen:
- Recombinant fusion protein of human NPHP3 (NP_694972.3).
- appl_detail:
- WB 1:200 - 1:2000
- other_names:
- NPHP3; CFAP31; MKS7; NPH3; RHPD; RHPD1; SLSN3; nephrocystin-3
- Purification:
- Affinity purification
- Background:
- 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.
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