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Anti-MCCC2 Antibody Picoband® Fluoro488 Conjugated

Product Specifications

Background

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.

Synonyms

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

Gene Name

MCCC2

Gene ID

64087

UniProt

Q9HCC0

Host

Rabbit

Reactivity

Human, Mouse, Rat

Cross Reactivity

No cross-reactivity with other proteins.

Immunogen

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

Clonality

Polyclonal

Tissue Specificity

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

Applications

Flow Cytometry

Field of Research

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

Purification

Immunogen affinity purified.

Form

Liquid

Function

May be involved in eye development.

References & Citations

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.

Storage Conditions

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

Calculated Molecular Weight

27687 MW

Applications Notes

6

Gene Name Synonym

Homeobox protein SIX6

Subcellular Location

Nucleus .

Isotype

Rabbit IgG

Contents

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

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