Gene

hpdl

ID

ZDB-GENE-071004-50

Name

4-hydroxyphenylpyruvate dioxygenase-like

Symbol

hpdl Nomenclature History

Previous Names

Type

protein_coding_gene

Location

Chr: 12 Mapping Details/Browsers

Description

Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 83. Orthologous to human HPDL (4-hydroxyphenylpyruvate dioxygenase like).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With hpdl Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
hereditary spastic paraplegia 83	Alliance	Spastic paraplegia 83, autosomal recessive	619027
		Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	619026

Associated With hpdl Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004360	Glyoxalase/fosfomycin resistance/dioxygenase domain
Domain	IPR041735	4-hydroxyphenylpyruvate dioxygenase, C-terminal
Domain	IPR041736	4-hydroxyphenylpyruvate dioxygenase, N-terminal
Family	IPR005956	4-hydroxyphenylpyruvate dioxygenase
Homologous_superfamily	IPR029068	Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase