Anti-CCCC2 Antibody Picoband® fluoro488 Vervoeging

This gene encodes the small 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. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Homeobox protein SIX6; Homeodomain protein OPTX2; Optic homeobox 2; Sine oculis homeobox homolog 6; SIX6; OPTX2, SIX9

MCCC2

64087

Q9HCC0

Human, Mouse, Rat

No cross-reactivity with other proteins.

E.coli-derived human MCCC2 recombinant protein (Position: R21-D330) .

Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.

Flow Cytometry

Developmental Families, Domain Families, Epigenetics and Nuclear Signaling, Neuroscience, Sensory System, Transcription, Visual System

Immunogen affinity purified.

Liquid

May be involved in eye development.

1. Bannwart, C., Wermuth, B., Baumgartner, R., Suormala, T., Wiesmann, U. N. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J. Inherit. Metab. Dis. 15: 863-868, 1992. 2. 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. 3. Baykal, T., Gokcay, G. H., Ince, Z., Dantas, M. F., Fowler, B., Baumgartner, M. R., Demir, F., Can, G., Demirkol, M. Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome. J. Inherit. Metab. Dis. 28: 229-233, 2005.

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

27687 MW

6

Homeobox protein SIX6

Nucleus .

Rabbit IgG

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