HPDL - 4-hydroxyphenylpyruvate dioxygenase like Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84842

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	References	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
HY-P83297A	HPDL Antibody (YA3042)(PBS only)	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

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W087027	Maleimide-NOTA		99.69%	Unkown
HY-131183	PROTAC PD-1/PD-L1 degrader-1	Inhibitor	99.52%	Unkown
HY-174830	GJ19	Inhibitor	98.02%	Unkown
HY-P2477	Human PD-L1 inhibitor IV	Inhibitor	99.92%	Unkown
HY-P2478	Human PD-L1 inhibitor V	Inhibitor	98.70%	Unkown
HY-P2474	Human PD-L1 inhibitor I		99.22%	Unkown
HY-P2478A	Human PD-L1 inhibitor V TFA	Inhibitor	/	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-175294	PD-L1/Nampt-IN-1	Inhibitor	/	Unkown
HY-RS06336	HPDL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10185	PDCD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22202	Hpdl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	HPDL	NCBI