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Gene

LZTR1

leucine zipper like post translational regulator 1

Summary

Cytogenetic location
22q11.21
Coordinates
Chromosome 22: 20,982,297–20,999,032 (GRCh38)
Exons
21 exons across 16.7 kb
Protein
840 amino acids
Inheritance
Autosomal dominant
Also known as
LZTR-1, BTBD29
MANE Select transcript
ENST00000646124.2NM_006767.4
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

  • Neurofibromatosis

    • Autosomal dominant

      A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist.

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

      Genotype-phenotype correlation, MEK inhibitor therapy for inoperable plexiform neurofibromas, Tumor surveillance, cascade testing

  • Noonan Syndrome

    • Autosomal dominant

      Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.

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

      Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials

    • Noonan Syndrome and Noonan-Related Syndromes

      A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.

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

      Knowing about it supports heart, growth and developmental assessment.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

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

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

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 LZTR1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 22, with a bracket where LZTR1 sits. LZTR1 and 17 genes near it on chromosome 22, from 20,490,665 to 21,490,664.Chromosome 2222q11.21p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3320.6 Mb20.8 Mb21 Mb21.2 Mb21.4 MbKLHL22: 20,441,519–20,496,893, reverse strandKLHL22MED15: 20,495,913–20,587,632, forward strandMED15PI4KA: 20,707,691–20,859,417, reverse strandPI4KASERPIND1: 20,774,092–20,787,721, forward strandSERPIND1SNAP29: 20,858,537–20,891,218, forward strandSNAP29CRKL: 20,917,353–20,953,747, forward strandCRKLAIFM3: 20,965,108–20,981,364, forward strandAIFM3LZTR1: 20,982,297–20,999,032, forward strandLZTR1THAP7: 20,999,104–21,002,196, reverse strandTHAP7LRRC74BNL: 21,007,199–21,014,301, reverse strandLRRC74BNL: 21,008,247–21,032,572, reverse strandP2RX6: 21,009,808–21,028,013, forward strandSLC7A4: 21,028,715–21,032,933, reverse strandLRRC74B: 21,045,941–21,064,168, forward strandFAM246A: 21,360,601–21,361,299, reverse strandFAM246ARIMBP3B: 21,383,751–21,389,478, forward strandRIMBP3BHIC2: 21,416,504–21,451,463, forward strandHIC2TMEM191C: 21,466,423–21,471,269, forward strandTMEM191CDiagram of LZTR1: 21 exons on the forward strand of chromosome 22Exon 1: 40 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 4: 21 known disease-causing sitesExon 5: 25 known disease-causing sitesExon 6: 17 known disease-causing sitesExon 7: 16 known disease-causing sitesExon 8: 31 known disease-causing sitesExon 9: 38 known disease-causing sitesExon 10: 27 known disease-causing sitesExon 11: 22 known disease-causing sitesExon 12: 15 known disease-causing sitesExon 13: 22 known disease-causing sitesExon 14: 32 known disease-causing sitesExon 15: 24 known disease-causing sitesExon 16: 33 known disease-causing sitesExon 17: 19 known disease-causing sitesExon 18: 25 known disease-causing sitesExon 19: 23 known disease-causing sitesExon 20: 13 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 1: 20,982,297–20,982,571, 275 basesExon 2: 20,983,027–20,983,089, 63 basesExon 3: 20,985,841–20,985,897, 57 basesExon 4: 20,987,504–20,987,583, 80 basesExon 5: 20,988,010–20,988,118, 109 basesExon 6: 20,988,789–20,988,872, 84 basesExon 7: 20,989,625–20,989,682, 58 basesExon 8: 20,990,386–20,990,525, 140 basesExon 9: 20,991,628–20,991,829, 202 basesExon 10: 20,992,214–20,992,369, 156 basesExon 11: 20,992,794–20,992,904, 111 basesExon 12: 20,993,662–20,993,754, 93 basesExon 13: 20,993,924–20,994,019, 96 basesExon 14: 20,994,104–20,994,269, 166 basesExon 15: 20,994,558–20,994,727, 170 basesExon 16: 20,994,870–20,995,026, 157 basesExon 17: 20,995,746–20,995,872, 127 basesExon 18: 20,995,963–20,996,112, 150 basesExon 19: 20,996,696–20,996,801, 106 basesExon 20: 20,996,886–20,996,966, 81 basesExon 21: 20,997,232–20,999,032, 1,801 bases12468101214161820215′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 4.3 kb of the gene's 16.7 kb; 2,523 of those bases code for the protein.

How a genome test reads LZTR1

552

positions in LZTR1 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 16.7 kb of LZTR1, introns included, not only the 4.3 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.). LZTR1 gene: leucine zipper like post translational regulator 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/lztr1

Vancouver

Dante Labs. LZTR1 gene: leucine zipper like post translational regulator 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lztr1

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