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Gene

PTCH1

patched 1

Summary

Cytogenetic location
9q22.32
Coordinates
Chromosome 9: 95,442,980–95,509,266 (GRCh38)
Exons
24 exons across 66.3 kb
Protein
1,447 amino acids
Inheritance
Autosomal dominant
Also known as
BCNS, SLC65B1
Previous symbols
NBCCS, PTCH
MANE Select transcript
ENST00000331920.11NM_000264.5
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

  • Nevoid Basal Cell Carcinoma (Gorlin) Syndrome

    • Nevoid basal cell carcinoma syndromeAutosomal dominant

      PTCH1- or SUFU-related syndrome with multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal changes and risk of medulloblastoma.

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

      Regular skin, dental and (in young children) neurological checks, sun protection, and avoiding radiotherapy where possible.

  • Non-Acquired Combined Pituitary Hormone Deficiency

    • Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PTCH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where PTCH1 sits. PTCH1 and 3 genes near it on chromosome 9, from 94,976,123 to 95,976,122.Chromosome 99q22.32p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.395 Mb95.2 Mb95.4 Mb95.6 Mb95.8 MbAOPEP: 94,726,604–95,151,793, forward strandAOPEPFANCC: 95,099,054–95,426,796, reverse strandFANCCPTCH1: 95,442,980–95,509,266, reverse strandPTCH1ERCC6L2: 95,871,264–96,121,154, forward strandERCC6L2Diagram of PTCH1: 24 exons on the reverse strand of chromosome 9Exon 23: 2 known disease-causing sitesExon 22: 3 known disease-causing sitesExon 21: 19 known disease-causing sitesExon 20: 21 known disease-causing sitesExon 19: 15 known disease-causing sitesExon 18: 37 known disease-causing sitesExon 17: 24 known disease-causing sitesExon 16: 18 known disease-causing sitesExon 15: 50 known disease-causing sitesExon 14: 48 known disease-causing sitesExon 13: 9 known disease-causing sitesExon 12: 14 known disease-causing sitesExon 11: 10 known disease-causing sitesExon 10: 24 known disease-causing sitesExon 9: 20 known disease-causing sitesExon 8: 24 known disease-causing sitesExon 7: 19 known disease-causing sitesExon 6: 34 known disease-causing sitesExon 5: 22 known disease-causing sitesExon 4: 18 known disease-causing sitesExon 3: 30 known disease-causing sitesExon 2: 36 known disease-causing sitesExon 1: 6 known disease-causing sitesExon 24: 95,442,980–95,446,391, 3,412 basesExon 23: 95,446,911–95,447,451, 541 basesExon 22: 95,449,069–95,449,323, 255 basesExon 21: 95,449,841–95,449,940, 100 basesExon 20: 95,453,478–95,453,620, 143 basesExon 19: 95,456,276–95,456,413, 138 basesExon 18: 95,458,013–95,458,293, 281 basesExon 17: 95,459,600–95,459,783, 184 basesExon 16: 95,461,856–95,461,998, 143 basesExon 15: 95,467,116–95,467,425, 310 basesExon 14: 95,468,751–95,469,153, 403 basesExon 13: 95,469,813–95,469,931, 119 basesExon 12: 95,476,034–95,476,159, 126 basesExon 11: 95,476,759–95,476,857, 99 basesExon 10: 95,477,547–95,477,702, 156 basesExon 9: 95,478,055–95,478,186, 132 basesExon 8: 95,479,000–95,479,147, 148 basesExon 7: 95,479,969–95,480,090, 122 basesExon 6: 95,480,390–95,480,588, 199 basesExon 5: 95,481,949–95,482,040, 92 basesExon 4: 95,482,134–95,482,203, 70 basesExon 3: 95,485,685–95,485,874, 190 basesExon 2: 95,506,407–95,506,599, 193 basesExon 1: 95,508,161–95,509,266, 1,106 bases2422201816141210864215′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 8.7 kb of the gene's 66.3 kb; 4,344 of those bases code for the protein.

How a genome test reads PTCH1

589

positions in PTCH1 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 66.3 kb of PTCH1, introns included, not only the 8.7 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.). PTCH1 gene: patched 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ptch1

Vancouver

Dante Labs. PTCH1 gene: patched 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ptch1

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