BC096097
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
49,123 Da
NCBI Official Full Name
Homo sapiens histidine ammonia-lyase, mRNA
NCBI Official Synonym Full Names
histidine ammonia-lyase
NCBI Official Synonym Symbols
NCBI Protein Information
histidine ammonia-lyase
UniProt Protein Name
Histidine ammonia-lyase
UniProt Synonym Gene Names
UniProt Entry Name
HUTH_HUMAN
NCBI Summary for HAL
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]
UniProt Comments for HAL
HAL: Defects in HAL are the cause of histidinemia (HISTID). It is an autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. Belongs to the PAL/histidase family.
Protein type: Energy Metabolism - nitrogen; Lyase; Amino Acid Metabolism - histidine; EC 4.3.1.3
Chromosomal Location of Human Ortholog: 12q22-q24.1
Cellular Component: cytosol
Molecular Function: histidine ammonia-lyase activity
Biological Process: histidine catabolic process
Disease: Histidinemia
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Pathways associated with HAL cdna clone
Diseases associated with HAL cdna clone
Organs/Tissues associated with HAL cdna clone
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