HAL Chromosome 12
Histidine ammonia-lyase
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What This Gene Does
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]
Associated Conditions (8)
Increased histidine
Histidinemia
HAL-related disorder
Colon adenocarcinoma
Hepatocellular carcinoma
Clear cell carcinoma of kidney
Ovarian serous cystadenocarcinoma
Lung cancer
Key Variants
RS141634423
association
Increased histidine, Increased histidine
Health Risk
RS34457757
association
Increased histidine, Increased histidine
Health Risk
RS76945459
association
Increased histidine, Increased histidine
Health Risk
RS115620008
Conflicting classifications of pathogenicity
Histidinemia, Histidinemia
Health Risk
RS117991621
Conflicting classifications of pathogenicity
Histidinemia, HAL-related disorder, Colon adenocarcinoma
Health Risk
RS151109430
Conflicting classifications of pathogenicity
Histidinemia, HAL-related disorder, Histidinemia
Health Risk
RS35144639
Conflicting classifications of pathogenicity
Histidinemia, Histidinemia
Health Risk
RS781172842
Conflicting classifications of pathogenicity
Histidinemia, Histidinemia
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141634423 | Health Risk | association | Increased histidine, Increased histidine |
| RS34457757 | Health Risk | association | Increased histidine, Increased histidine |
| RS76945459 | Health Risk | association | Increased histidine, Increased histidine |
| RS115620008 | Health Risk | Conflicting classifications of pathogenicity | Histidinemia, Histidinemia |
| RS117991621 | Health Risk | Conflicting classifications of pathogenicity | Histidinemia, HAL-related disorder, Colon adenocarcinoma |
| RS151109430 | Health Risk | Conflicting classifications of pathogenicity | Histidinemia, HAL-related disorder, Histidinemia |
| RS35144639 | Health Risk | Conflicting classifications of pathogenicity | Histidinemia, Histidinemia |
| RS781172842 | Health Risk | Conflicting classifications of pathogenicity | Histidinemia, Histidinemia |
| RS121434327 | Trait | Affects | Histidinemia, Histidinemia |
| RS121434328 | Trait | Affects | Histidinemia, Histidinemia |
| RS121434329 | Trait | Affects | Histidinemia, Histidinemia |
| RS121434330 | Trait | Affects | Histidinemia, Histidinemia |