| Entrez Gene ID | 3034 |
|---|---|
| Official Gene Symbol | HAL (GeneCards) |
| Full name | histidine ammonia-lyase |
| Location | 12q23.1 |
| Other ids | Vega : OTTHUMG00000170354 MIM : 609457 HGNC : HGNC:4806 Ensembl : ENSG00000084110 |
| Other names | HIS, HSTD |
| 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29864 | 3034 | HAL | 12 | 96374614 | 96374614 | Autism Spectrum Disorders | NextSeq500 |