HAL
Involvement in disease
Histidinemia
HISTID
Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 1/3.
Post-translational modifications
Contains an active site 4-methylidene-imidazol-5-one (MIO), which is formed autocatalytically by cyclization and dehydration of residues Ala-Ser-Gly.
Sequence Similarities
Belongs to the PAL/histidase family.
Alternative names
HIS, HAL, Histidine ammonia-lyase, Histidase