Anti-ELOVL4 antibody detects endogenous levels of total ELOVL4 protein.
The ELOVL4 (elongation of very long chain fatty acids protein 4) gene is mapped to human chromosome 6q14.1. The encoded protein localizes to endoplasmic reticulum. ELOVL4 protein consists of five transmembrane domains, a histidine cluster motif and di-lysine motif at the C-terminus.
Imunogênio
The antiserum was produced against synthesized peptide derived from human ELOVL4.
Immunogen Range: 41-90
Ações bioquímicas/fisiológicas
ELOVL4 (elongation of very long chain fatty acids protein 4) plays an important role in the biosynthesis of very long chain fatty acids (both saturated and unsaturated) in the retina, meibomian gland, skin, testis and brain. Mutation in the gene causes autosomal dominant Stargardt3 macular dystrophy. Variation in ELOVL4 results in spastic quadriplegia, ichthyosis and intellectual disability leading to neuro-ichthyotic disorder.
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forma física
Rabbit IgG in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
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Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
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A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.
Mir H
BMC Medical Genetics, 15:25, 1-5 (2014)
Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4.
Logan S and Anderson RE
Advances in Experimental Medicine and Biology, 801, 447-453 (2014)
Different Mutations in ELOVL4 Affect Very Long Chain Fatty Acid Biosynthesis to Cause Variable Neurological Disorders in Humans.
Agbaga MP
Advances in Experimental Medicine and Biology, 854, 129-135 (2016)
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