组氨酸解氨酶
Sign in to saveAlso known as HIS, HSTD, histidine ammonia-lyase, Histidine ammonia-lyase
位於12號人類染色體的基因
Gene data
HAL- Name
- histidine ammonia-lyase
- Type
- protein-coding
- Position
- 95,972,662–95,996,365 (−)
- Aliases
- HIS, HSTD
- Ensembl
- ENSG00000084110
- RefSeq RNA
- NM_001258333.2, NM_001258334.2, NM_002108.4, XM_011538249.3, XM_017019246.1
- RefSeq protein
- NP_001245262.1, NP_001245263.1, NP_002099.1, XP_011536551.1, XP_016874735.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
histidine ammonia-lyase
- Symbol
- HAL
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 12:95,972,662-95,996,365
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 68229
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/3034
- genomic end
- 96390143
- genomic start
- 96366440
- chromosome
- human chromosome 12
- cytogenetic location
- 12q23.1
- genetic association
- histidinemia
- Commons category
- Histidine ammonia-lyase (HAL)
Sources (4)
via Wikidata · CC0
Article · 中文
组氨酸解氨酶（英語：Histidine ammonia-lyase，或称为组氨酸氨裂解酶或组氨酸酶）在人体中是一种由HAL基因编码的酶。组氨酸解氨酶将组氨酸转变为氨与尿刊酸。
Abstract from DBpedia / Wikipedia · CC BY-SA