HPDL - 4-hydroxyphenylpyruvate dioxygenase like Gene

Homo sapiens

Also known as SPG83; GLOXD1; NEDSWMA; 4-HPPD-L

Gene ID: 84842 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_032756.4	NP_116145.1	4-hydroxyphenylpyruvate dioxygenase-like protein

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	32707086	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

4-hydroxyphenylpyruvate dioxygenase-like protein

HPD-like protein

HPDL Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83297	HPDL Antibody (YA3042)	WB, IP	Human

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-131183	PROTAC PD-1/PD-L1 degrader-1	Inhibitor	99.52%	Unkown
HY-P2478A	Human PD-L1 inhibitor V TFA	Inhibitor	/	Unkown
HY-P2477	Human PD-L1 inhibitor IV	Inhibitor	99.68%	Unkown
HY-P2474	Human PD-L1 inhibitor I		98.93%	Unkown
HY-P2478	Human PD-L1 inhibitor V	Inhibitor	99.04%	Unkown
HY-130625	PD-1/PD-L1-IN 6	Inhibitor	/	Unkown
HY-155740	PD-1/PD-L1-IN-32	Inhibitor	/	Unkown
HY-168080	PD-1/PD-L1-IN-51	Inhibitor	/	Unkown
HY-RS06336	HPDL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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