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]
Function:
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.
DISEASE:
Histidinemia (HISTID) [MIM:235800]: Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the PAL/histidase family.
SWISS:
P42357
Gene ID:
3034
Database links:
Entrez Gene: 378924 Chicken
Entrez Gene: 615205 Cow
Entrez Gene: 3034 Human
Entrez Gene: 15109 Mouse
Entrez Gene: 29301 Rat
Omim: 609457 Human
SwissProt: A7YWP4 Cow
SwissProt: P42357 Human
SwissProt: P35492 Mouse
SwissProt: P21213 Rat
Unigene: 190783 Human
Unigene: 742210 Human
Unigene: 13000 Mouse
Unigene: 10037 Rat
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