anti-GDP-Mannose Pyrophosphorylase B (GMPPB) Anticorps

GMPPB is thought to encode a GDP-mannose pyrophosphorylase. De plus, nous expédions GDP-Mannose Pyrophosphorylase B Protéines (9) et et beaucoup plus de produits pour cette protéine.

Gène	GeneID	UniProt
GMPPB	29925	Q9Y5P6
GMPPB	331026	Q8BTZ7
GMPPB	363145

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Top anti-GDP-Mannose Pyrophosphorylase B Anticorps sur anticorps-enligne.fr

Showing 10 out of 45 products:

Catalogue No.	Reactivité	Hôte	Conjugué	Application	Quantité	Fournisseur	Livraison	Prix	Détails
ABIN2783543	Boeuf (Vache)	Lapin	Inconjugué	WB	100 μL	Connectez-vous pour afficher	2 to 3 Days	$319.00	Détails
ABIN2783544	Boeuf (Vache)	Lapin	Inconjugué	IHC, WB	100 μL	Connectez-vous pour afficher	2 to 3 Days	$229.00	Détails
ABIN395364	Humain	Souris	Inconjugué	ELISA, IHC, WB	100 μg	Connectez-vous pour afficher	8 to 11 Days	$527.50	Détails
ABIN321530	Boeuf (Vache)	Lapin	Inconjugué	IHC, IHC (p), WB	100 μg	Connectez-vous pour afficher	11 to 14 Days	$493.17	Détails
ABIN799368	Fruit Fly	Lapin	Inconjugué	WB	50 μg	Connectez-vous pour afficher	11 to 14 Days	$551.83	Détails
ABIN599231	Humain	Souris	Inconjugué	ELISA, IHC, IHC (p), WB	100 μg	Connectez-vous pour afficher	11 to 14 Days	$537.17	Détails
ABIN526161	Humain	Souris	Inconjugué	IHC (p), ELISA, WB	100 μg	Connectez-vous pour afficher	11 to 12 Days	$440.00	Détails
ABIN5534335	Humain	Lapin	Inconjugué	WB	200 μL	Connectez-vous pour afficher	2 to 3 Days	$515.63	Détails
ABIN5534336	Souris	Lapin	Inconjugué	WB	200 μL	Connectez-vous pour afficher	2 to 3 Days	$515.63	Détails
ABIN4315216	Humain	Lapin	Inconjugué	IHC, IHC (p), WB	100 μL	Connectez-vous pour afficher	8 to 11 Days	$446.35	Détails

Plus produit pour GDP-Mannose Pyrophosphorylase B Anticorps

Plus d’anticorps contre GDP-Mannose Pyrophosphorylase B partenaires d’interaction

Human GDP-Mannose Pyrophosphorylase B (GMPPB) interaction partners

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Study finds that the GMPPB mutation spectrum in Chinese patients may differ from that of European populations, with the mutation p.(Arg357His) most frequently found. These mutations may lead to abnormal folding of GMPPB leading to protein aggregates in the cytoplasm rather than an overall loss in protein expression.
Patients with GMPPB-CMS have phenotypic features aligned with CMS subtypes harbouring mutations within the early stages of the glycosylation pathway. Additional features shared with the dystroglycanopathies include myopathic features, raised Creatine Kinase levels and variable mild cognitive delay.
We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development.
This study found mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases.
The phenotypic spectrum of GMPPB mutations was expanded to include limb-girdle muscular dystrophies.
Work confirms a role for GMPPB defects in alpha-dystroglycanopathy, and suggests that glycosylation may play a role in the neuronal membrane channels or networks involved in the physiology of generalized epilepsy syndromes.
Individuals with GMPPB mutations have hypoglycosylated alpha-dystroglycan in muscle. These mutations cause congenital and limb-girdle muscular dystrophies.

GDP-Mannose Pyrophosphorylase B (GMPPB) profil antigène

Profil protéine

This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described.

Gene names and symbols associated with GMPPB

GDP-mannose pyrophosphorylase B (gmppb) anticorps
GDP-mannose pyrophosphorylase B L homeolog (gmppb.L) anticorps
GDP-mannose pyrophosphorylase B (GMPPB) anticorps
GDP-mannose pyrophosphorylase B (LOAG_13550) anticorps
GDP-mannose pyrophosphorylase B (Gmppb) anticorps

AI317178 anticorps
E430010H19 anticorps
GMPPB anticorps
gmppl anticorps
MDDGA14 anticorps
MDDGB14 anticorps
MDDGC14 anticorps
RGD1560458 anticorps
zgc:92026 anticorps

Protein level used designations for GMPPB

GTP-mannose-1-phosphate guanylyltransferase beta , mannose-1-phosphate guanyltransferase beta , GDP-mannose pyrophosphorylase B-A , GTP-mannose-1-phosphate guanylyltransferase beta-A , mannose-1-phosphate guanyltransferase beta-A , GDP-mannose pyrophosphorylase B , mannose-1-phosphate guanyltransferase beta-like

GENE ID	SPECIES
445097	Danio rerio
447346	Xenopus laevis
100856660	Canis lupus familiaris
460378	Pan troglodytes
493267	Xenopus (Silurana) tropicalis
9951021	Loa loa
100028039	Monodelphis domestica
100357646	Oryctolagus cuniculus
100397938	Callithrix jacchus
100436355	Pongo abelii
100474972	Ailuropoda melanoleuca
100583111	Nomascus leucogenys
29925	Homo sapiens
331026	Mus musculus
514161	Bos taurus
100513376	Sus scrofa
363145	Rattus norvegicus

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