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IDS Polyclonal Antibody, 50ul Contamination Detection & Removal Defects in this gene can

SKU: 51539460331

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IDS Polyclonal Antibody, 50ul Contamination Detection & Removal Defects in this gene canThis gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X linked lysosomal storage disease mucopolysaccharidosis type II also known as Hunter syndrome. Alternative splicing results in multiple transcript variants at

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Description

Defects in this gene can also cause cone-rod dystrophy type 11| a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity| followed by the degeneration of rod photoreceptor cells| which progresses to night blindness and the loss of peripheral vision

It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis

activating the phospholipase C signaling pathway

Overexpression of this gene is associated with increased differentiation and proliferation in colorectal cancer

Arylsulfatase E is a member of the sulfatase family

IDS Polyclonal Antibody, 50ul Contamination Detection & Removal Defects in this gene canThis gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X linked lysosomal storage disease mucopolysaccharidosis type II also known as Hunter syndrome. Alternative splicing results in multiple transcript variants at

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