Skip to content
Use your HSA or FSA funds

Gene

TH

tyrosine hydroxylase

Summary

Cytogenetic location
11p15.5
Coordinates
Chromosome 11: 2,163,929–2,171,815 (GRCh38)
Exons
13 exons across 7.9 kb
Protein
497 amino acids
Also known as
DYT5b
MANE Select transcript
ENST00000352909.8NM_000360.4
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 report relevant to this gene

  • BH4 Deficiency & Monoamine Neurotransmitter Disorders

    • Inborn Disorders of Neurotransmitter Metabolism and Transport

      Includes aromatic L-amino acid decarboxylase (AADC) deficiency, tyrosine hydroxylase deficiency and vesicular monoamine transporter (SLC18A2) disease, which can cause movement disorders, low muscle tone and developmental delay.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows targeted treatment such as L-dopa for tyrosine hydroxylase deficiency or gene therapy for AADC deficiency.

How TH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 11, with a bracket where TH sits. TH and 22 genes near it on chromosome 11, from 1,667,872 to 2,667,871.Chromosome 1111p15.5p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q251.8 Mb2 Mb2.2 Mb2.4 Mb2.6 MbKRTAP5-6: 1,697,195–1,697,755, forward strandKRTAP5-6IFITM10: 1,732,406–1,750,607, reverse strandIFITM10: 1,734,821–1,763,954, reverse strandCTSD: 1,752,752–1,764,573, reverse strandCTSDSYT8: 1,828,307–1,837,521, forward strandSYT8TNNI2: 1,838,971–1,841,680, forward strandTNNI2LSP1: 1,850,904–1,892,267, forward strandLSP1PRR33: 1,888,078–1,917,713, reverse strandPRR33TNNT3: 1,919,456–1,938,711, forward strandTNNT3MRPL23: 1,947,278–2,014,943, forward strandMRPL23H19: 1,995,165–2,004,552, reverse strandH19IGF2: 2,129,112–2,158,596, reverse strandIGF2: 2,129,112–2,149,603, reverse strandINS-IGF2: 2,132,538–2,161,209, reverse strandINS-IGF2INS: 2,159,779–2,161,221, reverse strandINSTH: 2,163,929–2,171,815, reverse strandTHASCL2: 2,268,498–2,271,040, reverse strandASCL2C11orf21: 2,295,628–2,303,180, reverse strandC11orf21TSPAN32: 2,301,981–2,318,204, forward strandTSPAN32CD81: 2,376,166–2,398,079, forward strandCD81TSSC4: 2,400,488–2,403,878, forward strandTSSC4TRPM5: 2,404,515–2,444,519, reverse strandTRPM5KCNQ1: 2,444,654–2,849,105, forward strandKCNQ1Diagram of TH: 13 exons on the reverse strand of chromosome 11Exon 13: 7 known disease-causing sitesExon 12: 8 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 9: 11 known disease-causing sitesExon 8: 13 known disease-causing sitesExon 7: 25 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 2: 15 known disease-causing sitesExon 1: 4 known disease-causing sitesExon 13: 2,163,929–2,164,392, 464 basesExon 12: 2,165,232–2,165,365, 134 basesExon 11: 2,165,668–2,165,763, 96 basesExon 10: 2,166,002–2,166,058, 57 basesExon 9: 2,166,480–2,166,549, 70 basesExon 8: 2,166,633–2,166,768, 136 basesExon 7: 2,166,887–2,167,032, 146 basesExon 6: 2,167,435–2,167,485, 51 basesExon 5: 2,167,866–2,167,933, 68 basesExon 4: 2,168,091–2,168,179, 89 basesExon 3: 2,168,491–2,168,665, 175 basesExon 2: 2,169,650–2,169,871, 222 basesExon 1: 2,171,697–2,171,815, 119 bases131211109876543215′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 7.9 kb; 1,494 of those bases code for the protein.

How a genome test reads TH

170

positions in TH 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 7.9 kb of TH, 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.). TH gene: tyrosine hydroxylase. Retrieved 16 October 2026, from https://dantelabs.com/genes/th

Vancouver

Dante Labs. TH gene: tyrosine hydroxylase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/th

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test