Aperçu des produits pour Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant (CLN6) Kits ELISA

Full name:
Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant Kits ELISA (CLN6)
Chez www.anticorps-enligne.fr sont 0 Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant (CLN6) Kits ELISA de de différents fournisseurs disponibles. De plus, nous expédions Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant Anticorps (37) et Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant Protéines (3) et beaucoup plus de produits pour cette protéine. Un total de 43 Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant produits sont actuellement listés.
Synonymes:
1810065L06Rik, AW743417, CLN4A, cln6, D9Bwg1455e, HsT18960, nclf, zgc:103565
list all ELISA KIts Gène GeneID UniProt
Souris CLN6 CLN6 76524  
Humain CLN6 CLN6 54982 Q9NWW5
Rat CLN6 CLN6 315746  

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Plus Kits ELISA pour Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant partenaires d'interaction

Mouse (Murine) Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant (CLN6) interaction partners

  1. Data indicate that ceroid-lipofuscinosis, neuronal 6 protein Cln6(nclf) mutation leads to deficits in motor coordination, vision, memory, and learning.

  2. These findings implicate Cln6 in the survival and maturation of specific neuronal populations during development and make it possible to compare regional Cln6 expression with the distribution of subsequent pathology.

  3. Data show a progressive breakdown of axons and synapses in the brains of two different models of NCL (Montrer NCL Kits ELISA): Ppt1 (Montrer PPT1 Kits ELISA)(-/-) model of infantile NCL (Montrer NCL Kits ELISA) and Cln6(nclf) model of variant late-infantile NCL (Montrer NCL Kits ELISA).

  4. We concluded that alterations in neurite maturation resulting from a loss of CLN6-CRMP-2 (Montrer DPYSL2 Kits ELISA) interaction may contribute to neuronal dysfunction and pathology in vLINCL.

Human Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant (CLN6) interaction partners

  1. describe the spectrum of clinical and neurophysiologic features associated with mutations of CLN6.

  2. study demonstrates the central role of the metal transporter, Zip7 (Montrer SLC39A7 Kits ELISA), in the aberrant biometal metabolism of CLN6 variants of Neuronal ceroid lipofuscinoses.

  3. The study describes the first report in the North of Morocco of the CLN6 p.I154del mutation in 3 patients belonging to a large consanguineous family.

  4. our results add CLN6 to the genetic mutations causing teenage-onset progressive myoclonus epilepsy

  5. CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival.

  6. Sequencing of CLN6 will provide a simple diagnostic strategy in this disorder, in which definitive identification usually requires invasive biopsy.

  7. Expression studies of three mutations found in CLN6 patients predicted to affect transmembrane domain 3, cytoplasmic loop 2 or result in a truncated membrane protein respectively, is reported.

  8. gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

  9. novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes neuronal ceroid lipofuscinosis in mouse and man

  10. Eight novel mutations identified in CLN6 in 26 families with late infantile neuronal ceroid lipofuscinosis.

Cow (Bovine) Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant (CLN6) interaction partners

  1. The candidate genes for bovine Neuronal Ceroid Lipofuscinosis, CLN3 (Montrer CLN3 Kits ELISA), CLN5 (Montrer CLN5 Kits ELISA) and CLN6, have been mapped to facilitate linkage analysis in cattle and sheep.

Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant (CLN6) profil antigène

Antigen Summary

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.

Alternative names and synonyms associated with Ceroid-Lipofuscinosis, Neuronal 6, Late Infantile, Variant (CLN6)

  • ceroid-lipofuscinosis, neuronal 6 (Cln6) Elisa Kit
  • ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6) Elisa Kit
  • ceroid-lipofuscinosis, neuronal 6, late infantile, variant (cln6) Elisa Kit
  • ceroid-lipofuscinosis, neuronal 6, late infantile, variant (Cln6) Elisa Kit
  • ceroid-lipofuscinosis, neuronal 6a (cln6a) Elisa Kit
  • 1810065L06Rik Elisa Kit
  • AW743417 Elisa Kit
  • CLN4A Elisa Kit
  • cln6 Elisa Kit
  • D9Bwg1455e Elisa Kit
  • HsT18960 Elisa Kit
  • nclf Elisa Kit
  • zgc:103565 Elisa Kit

Protein level used designations for CLN6

neuronal ceroid lipofuscinosis , ceroid-lipofuscinosis neuronal protein 6 , ceroid-lipofuscinosis neuronal protein 6 homolog

GENE ID SPECIES
76524 Mus musculus
54982 Homo sapiens
100127342 Xenopus laevis
415558 Gallus gallus
497068 Canis lupus familiaris
617615 Bos taurus
315746 Rattus norvegicus
100156072 Sus scrofa
449809 Danio rerio
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