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HGD Rabbit Polyclonal Antibody, 50ul Plasmid Preparation Retinitis pigmentosa is an inherited

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HGD Rabbit Polyclonal Antibody, 50ul Plasmid Preparation Retinitis pigmentosa is an inheritedThis gene encodes the enzyme homogentisate 1 2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.

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Description

Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities

Alternatively spliced transcript variants encoding different isoforms have been observed for this gene

Normal blood lactate is maintained at about 1

Alternate use of an in-frame upstream non-AUG (CUG) translation initiation codon| and a downstream AUG codon| results in two isoforms

The protein encoded by STEAP4 (STEAP4 metalloreductase)belongs to the STEAP (six transmembrane epithelial antigen of prostate) family

HGD Rabbit Polyclonal Antibody, 50ul Plasmid Preparation Retinitis pigmentosa is an inheritedThis gene encodes the enzyme homogentisate 1 2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.

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