2. Gene
  3. HPDL - 4-hydroxyphenylpyruvate dioxygenase like Gene

HPDL - 4-hydroxyphenylpyruvate dioxygenase like Gene

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

中文名称：4-羟苯丙酮酸双加氧酶

种属: Homo sapiens

同用名: SPG83; GLOXD1; NEDSWMA; 4-HPPD-L

基因 ID: 84842 | 基因类型: protein coding

关于 HPDL

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:45,326,895-45,328,710 (from NCBI)

This gene has 1 transcript (splice variant), 188 orthologues, 1 paralogue and is associated with 4 phenotypes.

功能概要

由这种无内含子基因编码的蛋白质定位于线粒体，在那里它可能起到 4-羟基苯基丙酮酸双加氧酶的作用。临床研究已经确定了该基因中的几种双等位基因变异，这些变异会降低编码蛋白的水平，并导致临床变异形式的儿科发作痉挛性运动障碍。[RefSeq 提供，2020 年 8 月]

The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020]

HPDL 基因产物(1)

mRNA Protein Name
NM_032756.4 NP_116145.1 4-hydroxyphenylpyruvate dioxygenase-like protein
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
32707086 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
蛋白主名 其他名称

4-hydroxyphenylpyruvate dioxygenase-like protein

HPD-like protein

HPDL 抗体

目录号 产品名 应用 反应物种
HY-P83297 HPDL Antibody (YA3042) WB, IP Human

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities

NEDSWMA

Cerebral Palsy, Spastic Quadriplegic, 1

Cerebral Palsy, Spastic Quadriplegic, 1, Formerly

Cpsq1, Formerly

Cpsq1

Palsy, Cerebral, Spastic Quadriplegic, Type 1
Spastic Paraplegia 83, Autosomal Recessive

SPG83

Hereditary Spastic Paraplegia 83

Spastic Paraplegia 83 Autosomal Recessive

Doid:0112346

Paraplegia, Spastic, Type 83, Autosomal Recessive
Spastic Ataxia

Spax

Ataxia, Spastic
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Cerebral Palsy, Ataxic, Autosomal Recessive

Ataxic Cerebral Palsy

Acp

Hypotonic Cerebral Palsy

Cerebral Palsy Ataxic

Cerebral Palsy, Atonic

Congenital Cerebral Palsy With Ataxia

Ataxic Cerebral Paralysis

Ataxia With Cerebral Palsy

Cerebral Infantile Diataxia
Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure
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 (13)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-131183 PROTAC PD-1/PD-L1 degrader-1 Inhibitor 99.52% 否
HY-174830 GJ19 Inhibitor / 否
HY-P2477 Human PD-L1 inhibitor IV Inhibitor 99.92% 否
HY-P2478A Human PD-L1 inhibitor V TFA Inhibitor / 否
HY-P2474 Human PD-L1 inhibitor I 98.93% 否
HY-P2478 Human PD-L1 inhibitor V Inhibitor 99.04% 否
HY-130625 PD-1/PD-L1-IN 6 Inhibitor / 否
HY-155740 PD-1/PD-L1-IN-32 Inhibitor / 否
HY-168080 PD-1/PD-L1-IN-51 Inhibitor / 否
HY-175294 PD-L1/Nampt-IN-1 Inhibitor / 否
HY-RS06336 HPDL Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS10185 PDCD1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22202 Hpdl Mouse Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus HPDL RGD RGD:1310014
Felis catus HPDL VGNC VGNC:62836
Macaca mulatta HPDL VGNC VGNC:73450
Mus musculus HPDL MGD MGI:2444646
Canis familiaris HPDL VGNC VGNC:41771
Bos taurus HPDL VGNC VGNC:29940
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