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HAO1 Monoclonal Antibody(Mix), 100ul Immune Repertoire Sequencing Defects in the encoded protein

SKU: 18416724622

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HAO1 Monoclonal Antibody(Mix), 100ul Immune Repertoire Sequencing Defects in the encoded proteinThis gene is one of three related genes that have 2 hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two carbon substrate. The protein is also active on 2 hydroxy fatty acids. The transcript

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Description

Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy| in particular limb-girdle muscular dystrophy| type 2C (LGMD2C)

TALE homeobox proteins are highly conserved transcription regulators

a member of the troponin I gene family

The protein encoded by PEX11G may induce clustering of peroxisomes

HAO1 Monoclonal Antibody(Mix), 100ul Immune Repertoire Sequencing Defects in the encoded proteinThis gene is one of three related genes that have 2 hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two carbon substrate. The protein is also active on 2 hydroxy fatty acids. The transcript

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