Anti-CCCC1 Antibody Picoband® fluoro550 Vervoeging

This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism.

BAG family molecular chaperone regulator 5; BAG-5; Bcl-2-associated athanogene 5; BAG5; KIAA0873

MCCC1

56922

Q96RQ3

Human, Mouse, Rat

No cross-reactivity with other proteins.

E.coli-derived human MCCC1 recombinant protein (Position: Q104-E715) .

Expressed in all tissues examined with lower levels in brain and testis.

Flow Cytometry

Interleukins

Immunogen affinity purified.

Liquid

Inhibits both auto-ubiquitination of PARK2 and ubiquitination of target proteins by PARK2 (By similarity) . May function as a nucleotide exchange factor for HSP/HSP70, promoting ADP release, and activating Hsp70-mediated refolding. .

1. Baumgartner, M. R., Almashanu, S., Suormala, T., Obie, C., Cole, R. N., Packman, S., Baumgartner, E. R., Valle, D. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J. Clin. Invest. 107: 495-504, 2001. 2. Baumgartner, M. R., Dantas, M. F., Suormala, T., Almashanu, S., Giunta, C., Friebel, D., Gebhardt, B., Fowler, B., Hoffmann, G. F., Baumgartner, E. R., Valle, D. Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy. Am. J. Hum. Genet. 75: 790-800, 2004. 3. Gallardo, M. E., Desviat, L. R., Rodriguez, J. M., Esparza-Gordillo, J., Perez-Cerda, C., Perez, B., Rodriguez-Pombo, P., Criado, O., Sanz, R., Morton, D. H., Gibson, K. M., Le, T. P., Ribes, A., Rodriguez de Cordoba, S., Ugarte, M., Penalva, M. A. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Am. J. Hum. Genet. 68: 334-346, 2001.

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

80 kDa

6

BAG family molecular chaperone regulator 5

Perinuclear region.

BAG family molecular chaperone regulator 5

Rabbit IgG

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