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

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

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

Oxysterols receptor LXR-alpha encoded by NR1H3 belongs to the NR1 subfamily of the nuclear receptor superfamily

|PTM:Phosphorylated on tyrosines by ZAP-70 upon TCR activation| or by SYK upon other immunoreceptor activation

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

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.