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. Note: This description may include information from UniProtKB.
Protein type: Amino Acid Metabolism - histidine; EC; Energy Metabolism - nitrogen; Lyase
Chromosomal Location of Human Ortholog: 10 C2|10 48.49 cM
Cellular Component:  cytoplasm
Molecular Function:  ammonia-lyase activity; catalytic activity; histidine ammonia-lyase activity; lyase activity
Biological Process:  histidine catabolic process; histidine metabolic process
Reference #:  P35492 (UniProtKB)
Alt. Names/Synonyms: Hal; his; Histidase; histidine ammonia lyase; Histidine ammonia-lyase; histidinemia; Hsd; Huth
Gene Symbols: Hal
Molecular weight: 72,258 Da
Basal Isoelectric point: 5.94  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene