Gene: HAL

Alternate names for this Gene: HIS|HSTD

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q23.1

Description of this Gene: histidine ammonia-lyase

Type of Gene: protein-coding

rs3213737 in HAL gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs3213737 in HAL gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs3213737 in HAL gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs121434327 in HAL gene and Histidinemia PMID 15806399 2005 Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.

rs141634423 in HAL gene and Increased histidine PMID 25575548 2015 Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease.

PMID 23361591 2013 Histidine supplementation improves insulin resistance through suppressed inflammation in obese women with the metabolic syndrome: a randomised controlled trial.

PMID 15173056 2004 Inflammation as a cardiovascular risk factor.

rs3819817 in HAL gene and Vitamin D measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs3819817 in HAL gene and Vitamin D3 measurement PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.