HPDL 4-hydroxyphenylpyruvate dioxygenase like

Gene ID: 84842, updated on 19-Sep-2024
Gene type: protein coding
Also known as: SPG83; GLOXD1; NEDSWMA; 4-HPPD-L

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MedGen: C5436628OMIM: 619026GeneReviews: Not available	See labs
Spastic paraplegia 83, autosomal recessive MedGen: C5436637OMIM: 619027GeneReviews: Not available	not available

Genomic context

Location:: 1p34.1

Sequence:: Chromosome: 1; NC_000001.11 (45326895..45328710)

Total number of exons:: 1

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for HPDL variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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