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IQCB1 encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. Zusätzlich bieten wir Ihnen IQ Motif Containing B1 Antikörper (40) und IQ Motif Containing B1 Proteine (4) und viele weitere Produktgruppen zu diesem Protein an.
Nphp5(-/-) photoreceptor degeneration was complete at 1 mo of age but was delayed significantly in Nphp5(-/-);Nrl(-/-) (cone only) retina
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290 (zeige CEP290 ELISA Kits)) blindness: generation of an all-cone Nphp6 (zeige CEP290 ELISA Kits) hypomorph mouse that mimics the human retinal ciliopathy.
that nephrocystin-5 is essential for photoreceptor outer segment formation
Dynamic ubiquitination and deubiquitination of NPHP5 plays a crucial role in the regulation of ciliogenesis. NPHP5 directly binds to a deubiquitinating enzyme USP9X/FAM and two E3 ubiquitin ligases BBS11/TRIM32 and MARCH7/axotrophin.
NPHP5-mutant dogs recapitulate the human phenotype of very early loss of rods, and relative retention of the central retinal cone photoreceptors that lack function.
NPHP5 and Cep290 (zeige CEP290 ELISA Kits) regulate BBSome integrity, ciliary trafficking and cargo delivery.
High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families in Iranian children with nephronophthisis.
mutation is predicted to introduce a new open reading frame that results in the truncation of the C-terminal 235 amino acids of nephrocystin-5 and its consequent loss of function
NPHP5 mutations impair protein interaction with Cep290 (zeige CEP290 ELISA Kits) and localize to centrosomes, thereby compromising cilia formation.
in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1 (zeige ALMS1 ELISA Kits), IQCB1, CNGA3 (zeige CNGA3 ELISA Kits), and MYO7A (zeige MYO7A ELISA Kits)
Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L (zeige RPGRIP1L ELISA Kits) were associated with severe disease in XlRP with RPGR (zeige RPGR ELISA Kits) mutations.
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.
IQ calmodulin-binding motif containing 1
, IQ calmodulin-binding motif-containing protein 1
, IQ motif containing B1
, nephrocystin 5
, IQ calmodulin-binding motif-containing protein 1-like
, p53 and DNA damage-regulated IQ motif protein