Gene Symbol | HAL |
Entrez Gene ID | 3034 |
Full Name | histidine ammonia-lyase |
Synonyms | HIS,HSTD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | [Histidinemia], 235800 (3) |