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Gene

HPDL

4-hydroxyphenylpyruvate dioxygenase like

Summary

Cytogenetic location
1p34.1
Coordinates
Chromosome 1: 45,326,895–45,328,710 (GRCh38)
Exons
1 exon across 1.8 kb
Protein
371 amino acids
Also known as
MGC15668, 4-HPPD-L
Previous symbols
GLOXD1
MANE Select transcript
ENST00000334815.6NM_032756.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

    • Hereditary Spastic Paraplegia

      • Hereditary Spastic Paraplegia (All Types)

        One of 66 genes linked to it

        Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

        • 1 GenCC submitter rates it definitive or strong

    • Leigh Syndrome

      • One of 69 genes linked to it

        A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

        • ClinGen rates the link moderate

    How HPDL is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 1, with a bracket where HPDL sits. HPDL and 19 genes near it on chromosome 1, from 44,827,803 to 45,827,802.Chromosome 11p34.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4445 Mb45.2 Mb45.4 Mb45.6 Mb45.8 MbPTCH2: 44,819,154–44,843,253, reverse strandPTCH2EIF2B3: 44,850,464–44,986,722, reverse strandEIF2B3HECTD3: 45,002,540–45,011,369, reverse strandHECTD3UROD: 45,010,950–45,015,577, forward strandURODZSWIM5: 45,016,395–45,306,209, reverse strandZSWIM5HPDL: 45,326,895–45,328,710, forward strandHPDLMUTYH: 45,329,163–45,340,893, reverse strandMUTYH: 45,329,262–45,491,155, reverse strandTOE1: 45,339,938–45,345,623, forward strandTOE1TESK2: 45,343,877–45,491,203, reverse strandCCDC163: 45,493,863–45,500,163, reverse strandCCDC163MMACHC: 45,500,186–45,513,382, forward strandMMACHCPRDX1: 45,510,914–45,542,816, reverse strandPRDX1AKR1A1: 45,550,475–45,570,051, forward strandAKR1A1NASP: 45,583,576–45,618,905, forward strandNASPCCDC17: 45,620,044–45,624,062, reverse strandCCDC17GPBP1L1: 45,627,284–45,688,408, reverse strandGPBP1L1TMEM69: 45,688,149–45,718,150, forward strandTMEM69KLHL27: 45,692,370–45,750,805, reverse strandKLHL27MAST2: 45,786,987–46,036,228, forward strandMAST2Diagram of HPDL: one exon on the forward strand of chromosome 1Exon 1: 15 known disease-causing sitesExon 1: 45,326,895–45,328,710, 1,816 bases15′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 1.8 kb of the gene's 1.8 kb; 1,116 of those bases code for the protein.

    How a genome test reads HPDL

    15

    positions in HPDL where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 1.8 kb of HPDL, introns included, not only the 1.8 kb of exons.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). HPDL gene: 4-hydroxyphenylpyruvate dioxygenase like. Retrieved 16 October 2026, from https://dantelabs.com/genes/hpdl

    Vancouver

    Dante Labs. HPDL gene: 4-hydroxyphenylpyruvate dioxygenase like [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hpdl

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