Gene
DEGS1
delta 4-desaturase, sphingolipid 1
- HGNC 13709(opens in a new tab)
- Ensembl gene ENSG00000143753(opens in a new tab)
- NCBI Gene 8560(opens in a new tab)
Summary
- Cytogenetic location
- 1q42.11
- Coordinates
- Chromosome 1: 224,183,240–224,193,441 (GRCh38)
- Exons
- 3 exons across 10.2 kb
- Protein
- 323 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- MLD, Des-1, DES1, FADS7, DEGS-1
- MANE Select transcript
- ENST00000323699.9NM_003676.4
- 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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Get my Genome TestCurated reports relevant to this gene
Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies
- Hypomyelinating leukodystrophy 18 (DEGS1)Autosomal recessive
A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
Broader groupings
Other Inherited Leukodystrophies
- Leukodystrophy (other and unspecified types)
One of 80 genes linked to it
Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.
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 DEGS1 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 2 kb of the gene's 10.2 kb; 972 of those bases code for the protein.
How a genome test reads DEGS1
10
positions in DEGS1 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 10.2 kb of DEGS1, introns included, not only the 2 kb of exons.
Traits linked to DEGS1
The Human Phenotype Ontology lists these as features of the rare conditions DEGS1 can cause. Each trait's page lists the other genes linked to it.
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.
- 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.). DEGS1 gene: delta 4-desaturase, sphingolipid 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/degs1
Dante Labs. DEGS1 gene: delta 4-desaturase, sphingolipid 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/degs1
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