Gene
NFS1
NFS1 cysteine desulfurase
- HGNC 15910↗(opens in a new tab)
- Ensembl gene ENSG00000244005↗(opens in a new tab)
- NCBI Gene 9054↗(opens in a new tab)
Summary
- Cytogenetic location
- 20q11.22
- Coordinates
- Chromosome 20: 35,668,052–35,699,352 (GRCh38)
- Exons
- 13 exons across 31.3 kb
- Protein
- 457 amino acids
- Also known as
- NifS, IscS
- MANE Select transcript
- ENST00000374092.9NM_021100.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Primary Mitochondrial Disease
- Combined Oxidative Phosphorylation Deficiency
Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can end a diagnostic search and guide surveillance and supportive care.
How NFS1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 kb of the gene's 31.3 kb; 1,374 of those bases code for the protein.
Genes linked to the same conditions
- AARS2alanyl-tRNA synthetase 2, mitochondrialShares 1 condition
- AIFM1apoptosis inducing factor mitochondria associated 1Shares 1 condition
- ATP5F1AATP synthase F1 subunit alphaShares 1 condition
- ATP5F1DATP synthase F1 subunit deltaShares 1 condition
- ATP5F1EATP synthase F1 subunit epsilonShares 1 condition
- ATP5POATP synthase peripheral stalk subunit OSCPShares 1 condition
- C1QBPcomplement C1q binding proteinShares 1 condition
- C2orf69chromosome 2 open reading frame 69Shares 1 condition
- CARS2cysteinyl-tRNA synthetase 2, mitochondrialShares 1 condition
- CRLS1cardiolipin synthase 1Shares 1 condition
- EARS2glutamyl-tRNA synthetase 2, mitochondrialShares 1 condition
- ELAC2elaC ribonuclease Z 2Shares 1 condition
Traits linked to NFS1
The Human Phenotype Ontology lists these as features of the rare conditions NFS1 can cause. Each trait's page lists the other genes linked to it.
Laboratory abnormality
- Abnormal urinary amino-acid findings
- Elevated blood creatine phosphokinase
- Elevated blood glycine levels
- Elevated circulating alanine aminotransferase concentration
- Elevated circulating aspartate aminotransferase concentration
- Fatty infiltration of liver
- Higher than normal levels of lactate in blood
- Metabolic acidosis
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.
- 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.
- 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.). NFS1 gene: NFS1 cysteine desulfurase. Retrieved 17 October 2026, from https://dantelabs.com/genes/nfs1
Dante Labs. NFS1 gene: NFS1 cysteine desulfurase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nfs1
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