Gene
PFKM
phosphofructokinase, muscle
- HGNC 8877(opens in a new tab)
- Ensembl gene ENSG00000152556(opens in a new tab)
- NCBI Gene 5213(opens in a new tab)
Summary
- Cytogenetic location
- 12q13.11
- Coordinates
- Chromosome 12: 48,119,364–48,146,404 (GRCh38)
- Exons
- 23 exons across 27 kb
- Protein
- 780 amino acids
- Also known as
- PFK-1, PPP1R122
- Previous symbols
- PFKX
- MANE Select transcript
- ENST00000359794.11NM_000289.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads PFKM yet. The test sequences your whole genome, so your data includes it all the same.
How PFKM is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 3.1 kb of the gene's 27 kb; 2,343 of those bases code for the protein.
How a genome test reads PFKM
147
positions in PFKM 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 27 kb of PFKM, introns included, not only the 3.1 kb of exons.
Traits linked to PFKM
The Human Phenotype Ontology lists these as features of the rare conditions PFKM can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Exercise-induced muscle fatigue
- Exercise-induced muscle stiffness
- Tired easily
- Myotonia
- Exercise-induced muscle cramps
- Increased variability in muscle fiber diameter
- Muscle degeneration
- Muscle weakness
Show 1 more trait
Laboratory abnormality
- Elevated blood creatine phosphokinase
- Exercise-induced myoglobinuria
- High bili total
- Increased muscle glycogen content
- Reduced muscle 6-phosphofructokinase activity
- Blood in urine
- Elevated circulating aldolase concentration
- High blood uric acid level
Show 1 more trait
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). PFKM gene: phosphofructokinase, muscle. Retrieved 16 October 2026, from https://dantelabs.com/genes/pfkm
Dante Labs. PFKM gene: phosphofructokinase, muscle [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pfkm
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