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Gene

LDHA

lactate dehydrogenase A

Summary

Cytogenetic location
11p15.1
Coordinates
Chromosome 11: 18,394,563–18,408,425 (GRCh38)
Exons
8 exons across 13.9 kb
Protein
332 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000422447.8NM_005566.4
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

  • Glycogen Storage Disease

    • Lactate Dehydrogenase A DeficiencyAutosomal recessive

      Caused by variants in LDHA, which cause exercise-related muscle breakdown and sometimes skin rashes.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing helps avoid triggers of muscle breakdown and supports fast treatment.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How LDHA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where LDHA sits. LDHA and 20 genes near it on chromosome 11, from 17,901,494 to 18,901,493.Chromosome 1111p15.1p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2518 Mb18.2 Mb18.4 Mb18.6 Mb18.8 MbSERGEF: 17,788,043–18,013,199, reverse strandSERGEFTPH1: 18,017,555–18,046,269, reverse strandTPH1SAAL1: 18,069,935–18,106,108, reverse strandSAAL1MRGPRX3: 18,120,955–18,138,488, forward strandMRGPRX3MRGPRX4: 18,172,837–18,174,280, forward strandMRGPRX4SAA4: 18,229,731–18,236,860, reverse strandSAA4SAA2-SAA4: 18,231,423–18,248,635, reverse strandSAA2-SAA4SAA2: 18,238,236–18,248,668, reverse strandSAA2SAA1: 18,266,118–18,271,130, forward strandSAA1HPS5: 18,278,668–18,322,523, reverse strandHPS5GTF2H1: 18,322,254–18,367,881, forward strandGTF2H1LDHA: 18,394,563–18,408,425, forward strandLDHALDHC: 18,412,286–18,452,069, forward strandLDHCLDHAL6A: 18,455,823–18,479,601, forward strandLDHAL6ATSG101: 18,468,336–18,526,965, reverse strandTSG101UEVLD: 18,529,607–18,588,747, reverse strandUEVLDMISFA: 18,588,781–18,610,255, forward strandMISFASPTY2D1: 18,606,399–18,634,791, reverse strandSPTY2D1TMEM86A: 18,693,122–18,705,736, forward strandTMEM86AIGSF22: 18,704,312–18,726,230, reverse strandIGSF22PTPN5: 18,727,928–18,792,721, reverse strandPTPN5Diagram of LDHA: 8 exons on the forward strand of chromosome 11Exon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 1: 18,394,563–18,394,636, 74 basesExon 2: 18,396,819–18,396,968, 150 basesExon 3: 18,399,431–18,399,548, 118 basesExon 4: 18,400,837–18,401,010, 174 basesExon 5: 18,402,840–18,403,013, 174 basesExon 6: 18,403,694–18,403,811, 118 basesExon 7: 18,405,449–18,405,572, 124 basesExon 8: 18,407,117–18,408,425, 1,309 bases123456785′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 2.2 kb of the gene's 13.9 kb; 999 of those bases code for the protein.

How a genome test reads LDHA

12

positions in LDHA 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 13.9 kb of LDHA, introns included, not only the 2.2 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.). LDHA gene: lactate dehydrogenase A. Retrieved 16 October 2026, from https://dantelabs.com/genes/ldha

Vancouver

Dante Labs. LDHA gene: lactate dehydrogenase A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ldha

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