Aryl Hydrocarbon Receptor Interacting Protein-Like 1 (AIPL1) ELISA Kits

Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Zusätzlich bieten wir Ihnen Aryl Hydrocarbon Receptor Interacting Protein-Like 1 Antikörper (88) und Aryl Hydrocarbon Receptor Interacting Protein-Like 1 Proteine (11) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
AIPL1 23746 Q9NZN9
AIPL1 114230 Q924K1
AIPL1 59110 Q9JLG9
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Weitere ELISA Kits für Aryl Hydrocarbon Receptor Interacting Protein-Like 1 Interaktionspartner

Human Aryl Hydrocarbon Receptor Interacting Protein-Like 1 (AIPL1) Interaktionspartner

  1. Findings suggest that AIPL1 function in retinal photoreceptor cells is not related to the role of EB proteins in microtubule dynamics or primary ciliogenesis, but their association may be related to a specific role in the retinal photoreceptors.

  2. The authors established a transgenic mouse model for cone-rod dystrophy carrying human AIPL1 gene with deletion in the C-terminal proline-rich region.

  3. Gene therapy based approach may be worthy of consideration in a small group of selected patients with preserved outer retinal structure in AIPL1 Leber's congenital amaurosis.

  4. Mutations in the AIPL1 and RDH12 (zeige RDH12 ELISA Kits) genes associated with leber congenital amaurosis in two Turkish families.

  5. In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors.

  6. The unique proline-rich domain of AIPL1 is important for its chaperone function as its truncation severely affects the ability of AIPL1 to bind non-native proteins.

  7. implicate FAT10 (zeige UBD ELISA Kits) in retinal cell biology and Leber congenital amaurosis pathogenesis, and reveal a new role of AIPL1 in regulating the FAT10 (zeige UBD ELISA Kits) pathway.

  8. Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs (electroretinography) characterized by slow insensitive scotopic responses.

  9. AIPL1-Leber congenital amaurosis (LCA (zeige CLTA ELISA Kits)), unlike some other forms of LCA (zeige CLTA ELISA Kits) with equally severe visual disturbance, shows profound loss of foveal as well as extrafoveal photoreceptors.

  10. AIPL1 is needed for the proper functioning and survival of cone photoreceptors.

Mouse (Murine) Aryl Hydrocarbon Receptor Interacting Protein-Like 1 (AIPL1) Interaktionspartner

  1. AIPL1-mediated production of folded PDE6C is markedly elevated in the presence of the inhibitory Pgamma-subunit of PDE6.

  2. mechanistic differences behind the death of rods and cones in retinal degenerative disease caused by deficiencies in AIPL1.

  3. In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors.

  4. The binding of PDE6A (zeige PDE6A ELISA Kits) farnesyl is essential to normal function of AIPL1 and its disruption is one of the mechanisms underlying Leber congenital amaurosis.

  5. Loss of AIPL1 would result in a condition that phenocopies retinal degenerations in the rd mouse and in a subgroup of human

  6. AIPL1 enhances the stability of phosphodiesterase and is essential for photoreceptor viability.

  7. AIPL1 has a role in the retina and in mouse models of Leber congenital amaurosis [review]

  8. AIPL1 interacts with the catalytic subunit (alpha) of PDE6 and is needed for the assembly of functional rod PDE6 subunits.

Aryl Hydrocarbon Receptor Interacting Protein-Like 1 (AIPL1) Antigen-Profil

Beschreibung des Gens

Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA.

Genbezeichner und Symbole assoziert mit AIPL1

  • aryl hydrocarbon receptor interacting protein like 1 (AIPL1) Antikörper
  • aryl hydrocarbon receptor interacting protein like 1 (aipl1) Antikörper
  • aryl hydrocarbon receptor-interacting protein-like 1 (Aipl1) Antikörper
  • A930007I01Rik Antikörper
  • AIPL1 Antikörper
  • AIPL2 Antikörper
  • LCA4 Antikörper

Bezeichner auf Proteinebene für AIPL1

aryl hydrocarbon receptor interacting protein-like 1 , aryl-hydrocarbon-interacting protein-like 1 , aryl-hydrocarbon interacting protein-like 1

GENE ID SPEZIES
468171 Pan troglodytes
769785 Gallus gallus
100101778 Xenopus (Silurana) tropicalis
100347082 Oryctolagus cuniculus
23746 Homo sapiens
281609 Bos taurus
489447 Canis lupus familiaris
574331 Macaca mulatta
100970167 Pan paniscus
100524458 Sus scrofa
114230 Mus musculus
59110 Rattus norvegicus
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