Anti-HGD Antilichaam Picoband® (monoklonale, 2F11E1) fluoro550 Vervoeging

The HGD gene encodes homogentisate 1,2-dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria. This gene is mapped to chromosome 3q21-q23 by a preliminary PCR screen of hamster/human somatic cell hybrid genomic DNA samples and by fluorescence in situ hybridization.

Ras-related protein Rab-5A; RAB5A; RAB5

HGD

3081

Q93099

Human

No cross-reactivity with other proteins.

E. coli-derived human HGD recombinant protein (Position: D374-N445) .

Clone: 2F11E1

Widely expressed in fetal and adult tissues.

Flow Cytometry

Cell Type Marker, Neuron Marker, Neuroscience, Neurotransmission, Organelles, Protein Trafficking, Secretory Vesicles, Signal Transduction, Subcellular Markers, Synapse Marker, Tags & Cell Markers, Vesicle Transport

Immunogen affinity purified.

Liquid

The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors ly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of filopodia extension. Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan. Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3.

1. Fernandez-Canon, J. M., Granadino, B., Beltran-Valero de Bernabe, D., Renedo, M., Fernandez-Ruiz, E., Penalva, M. A., Rodriguez de Cordoba, S. The molecular basis of alkaptonuria. Nature Genet. 14: 19-24, 1996. 2. Vilboux, T., Kayser, M., Introne, W., Suwannarat, P., Bernardini, I., Fischer, R., O'Brien, K., Kleta, R., Huizing, M., Gahl, W. A. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum. Mutat. 30: 1611-1619, 2009.

At -20 ̊C for one year from date of receipt. Avoid repeated freezing and thawing. Protect from light.

25035 MW

6

RAB5A, member RAS oncogene family

Early endosome membrane. Lipid-anchor. Endosome membrane. Cytosol. Cell membrane. Cytoplasmic side. Melanosome. Cytoplasmic vesicle. Ruffle. Membrane. Phagosome membrane.

Mouse IgG2b

Each vial contains 50% glycerol, 0.9% NaCl, 0.2% Na2HPO4, 0.02% NaN3.