Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 Protéines (RPGRIP1)

RPGRIP1 encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. De plus, nous expédions Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 Anticorps (34) et Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 Kits (6) et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
RPGRIP1 57096 Q96KN7
RPGRIP1 77945 Q9EPQ2
Rat RPGRIP1 RPGRIP1 305850  
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Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
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Cellules d'insectes Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
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Wheat germ Humain GST tag 10 μg Connectez-vous pour afficher 11 to 12 Days
$414.29
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RPGRIP1 Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human ,
,
Mouse (Murine)

Plus protéines pour Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) partenaires d'interaction

Human Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) interaction partners

  1. Gene capture sequencing results found three probands carrying mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA (Montrer CLTA Protéines) (Leber's congenital amaurosis). By further clinical analysis, two probands were confirmed to be retinitis pigmentosa (RP) patients and one was confirmed to be LCA (Montrer CLTA Protéines) patient. These novel mutations were co-segregated with the disease phenotype in their families.

  2. Neurodevelopmental delay and brain atrophy in the CT scan were reported. Genomic sequencing identified a novel homozygous deletion, c.[420delG], in RPGRIP1. This mutation was not detected in 80 ethnically matched controls and has not been reported elsewhere. CONCLUSIONS: Identifying new mutations in Leber congenital amaurosis-related genes and their clinical manifestations can improve our understanding of the disease and.

  3. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review]

  4. SPATA7 (Montrer SPATA7 Protéines) plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3 (Montrer SPATA7 Protéines)/juvenile RP patients

  5. Although the present patients did not show sufficient clinical findings as Leber congenital amaurosis (LCA (Montrer CLTA Protéines)), PCR findings and direct sequencing following microarray analysis confirmed that they were LCA (Montrer CLTA Protéines).

  6. Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations.

  7. We report a novel RPGRIP1 mutation causing LCA (Montrer CLTA Protéines) in a consanguineous Emirati family. To the best of our knowledge, this alteration has not been described in the literature so far.

  8. Recessive RPGRIP1 mutations cause a severe cone-rod Leber congenital amaurosis phenotype, often with poor or no fixation and an oculodigital sign. In the first decade of life retinal changes are clinically most evident in the periphery.

  9. RPGRIP1 in human and in canine model involves protein network and photoreceptor cilia.

  10. Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly.

Mouse (Murine) Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) interaction partners

  1. the results of this study indicate that the effects of FTO-associated SNPs on energy homeostasis are due in part to the effects of these genetic variations on hypothalamic FTO, RPGRIP1L, and possibly other genes.

  2. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review]

  3. RPGRIP1 loss in photoreceptors shifts the subcellular partitioning of SDCCAG8 (Montrer SDCCAG8 Protéines) and NPHP4 (Montrer NPHP4 Protéines) to the membrane fraction associated to the endoplasmic reticulum.

  4. RPGRIP1 is essential for rod photoreceptor outer segment morphogenesis.

  5. RPGRIP1 and nephrocystin-4 (Montrer NPHP4 Protéines) interact strongly in vitro and in vivo, and that they colocalize in the retina

Cow (Bovine) Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) interaction partners

  1. RPGR (Montrer RPGR Protéines) and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors.

  2. RPGRIP1 and nephrocystin-4 (Montrer NPHP4 Protéines) interact strongly in vitro and in vivo, and that they colocalize in the retina

Profil protéine Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1)

Profil protéine

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness.

Gene names and symbols associated with RPGRIP1

  • RPGR interacting protein 1 (RPGRIP1)
  • retinitis pigmentosa GTPase regulator interacting protein 1 (Rpgrip1)
  • RPGR interacting protein 1 (Rpgrip1)
  • 0610005A07Rik Protéine
  • 4930401L23Rik Protéine
  • 4930505G06Rik Protéine
  • A930002K18Rik Protéine
  • AA415034 Protéine
  • CORD13 Protéine
  • LCA6 Protéine
  • nmf247 Protéine
  • RGI1 Protéine
  • RGRIP Protéine
  • RPGRIP Protéine
  • RPGRIP1d Protéine

Protein level used designations for RPGRIP1

retinitis pigmentosa GTPase regulator interacting protein 1 , X-linked retinitis pigmentosa GTPase regulator-interacting protein 1-like , x-linked retinitis pigmentosa GTPase regulator-interacting protein 1-like , RPGR-interacting protein 1 , X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

GENE ID SPECIES
473331 Pan troglodytes
475400 Canis lupus familiaris
100029857 Monodelphis domestica
100072725 Equus caballus
100357598 Oryctolagus cuniculus
100405160 Callithrix jacchus
100441722 Pongo abelii
100467875 Ailuropoda melanoleuca
57096 Homo sapiens
77945 Mus musculus
305850 Rattus norvegicus
282656 Bos taurus
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