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Rabbit Anti-Nephrocystin 5/FITC Conjugated antibody
background:
This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
Function:
Interacts with calmodulin.
Subcellular Location:
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21565611}. Note=Localization to the centrosome depends on the interaction with CEP290.
Tissue Specificity:
Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors. {ECO:0000269|PubMed:15723066, ECO:0000269|PubMed:16322217}.
DISEASE:
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21565611}. Note=Localization to the centrosome depends on the interaction with CEP290.
Similarity:
Contains 4 IQ domains.
Database links:
Entrez Gene: 9657 Human
Omim: 609237 Human
SwissProt: Q15051 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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