基因名:
ALAD
产品别名:
ALADH; PBGS; ALAD; aminolevulinate dehydratase; aminolevulinate dehydratase; delta-aminolevulinic acid dehydratase; aminolevulinate, delta-, dehydratase; porphobilinogen synthase; testicular tissue protein Li 95; δ氨基乙酰丙酸脱水酶; 氨乙酰丙酸δ脱水酶(ALAD);
背景信息:
Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen. Involvement in disease:Defects in ALAD are the cause of acute hepatic porphyria (AHP). AHP is a form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralysis, and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.