2. Gene
  3. HAL - histidine ammonia-lyase Gene

HAL - histidine ammonia-lyase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：组氨酸解氨酶

种属: Homo sapiens

同用名: HIS; HSTD

基因 ID: 3034 | 基因类型: protein coding

关于 HAL

Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:95,972,662-95,996,344 (from NCBI)

This gene has 11 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Biased expression in skin (RPKM 20.5), liver (RPKM 18.5) and 2 other tissues.

功能概要

组氨酸氨裂解酶是一种胞质酶，可催化组氨酸分解代谢中的第一个反应，即 L-组氨酸向反式尿刊酸的非氧化脱氨作用。组氨酸氨裂解酶缺陷导致组氨酸血症，其特征在于体液中组氨酸和组胺增加以及尿刊酸减少。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供，2012 年 4 月]

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]

HAL 基因产物(3)

mRNA Protein Name
NM_001258333.2 NP_001245262.1 histidine ammonia-lyase isoform 2
NM_001258334.2 NP_001245263.1 histidine ammonia-lyase isoform 3
NM_002108.4 NP_002099.1 histidine ammonia-lyase isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histidine ammonia-lyase activity EXP
EXP: 通过实验结果推断
15806399 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HAL 蛋白结构

Lyase_aromatic

Lyase_aromatic: Aromatic amino acid lyase (114 - 590)

  • 0
  • 200
  • 400
  • 600
  • 657 a.a.
蛋白主名 其他名称

histidine ammonia-lyase

histidase

关联疾病

疾病名称 别名
Histidinemia

Histidine Ammonia-Lyase Deficiency

Hal Deficiency

Histidase Deficiency

His Deficiency

Histidinuria

Hyperhistidinemia

HISTID

Histidinuria Renal Tubular Defect
Histidine Metabolism Disease

Disturbances Of Histidine Metabolism

Disorder Of Histidine Metabolism

Disturbance Of Histidine Metabolism
Palmoplantar Keratoderma, Bothnian Type

PPKB

Diffuse Palmoplantar Keratoderma, Bothnian Type

Bothnian Type Palmoplantar Keratoderma

Keratoderma, Palmoplantar, Bothnian Type

Palmoplantar Keratoderma, Nonepidermolytic
Corneal Dystrophy, Meesmann, 1

Meesmann Corneal Dystrophy

Mecd

Corneal Dystrophy, Meesmann Epithelial

Juvenile Hereditary Epithelial Dystrophy

Corneal Dystrophy, Juvenile Epithelial Of Meesmann

MECD1

Meesmann Corneal Dystrophy 1

Meesmann Corneal Epithelial Dystrophy

Meesmann Epithelial Corneal Dystrophy

Corneal Dystrophy, Juvenile Epithelial, Of Meesmann

Stocker-Holt Dystrophy

Meesman Dystrophy

Meesman'S Corneal Dystrophy

Juvenile Hereditary Epithelial Dystrophy Of Meesmann

Corneal Dystrophy, Meesmann 1

Juvenile Epithelial Corneal Dystrophy Of Meesmann

Mcd

Dystrophy, Corneal, Meesmann
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-157181 Hal-HS / 否
HY-157943 Hexyl 5-aminolevulinate / 否
HY-RS05994 HAL Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS17870 Hal Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24339 Hal Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus HAL MGD MGI:96010
Macaca mulatta HAL VGNC VGNC:73344
Rattus norvegicus HAL RGD RGD:68363
Bos taurus HAL VGNC VGNC:29744
Felis catus HAL VGNC VGNC:67534
Canis familiaris HAL VGNC VGNC:41587
Macaca fascicularis HAL NCBI NCBI:102115226
Others HAL NCBI
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