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Gene

CYP2U1

cytochrome P450 family 2 subfamily U member 1

Summary

Cytogenetic location
4q25
Coordinates
Chromosome 4: 107,931,549–107,953,461 (GRCh38)
Exons
5 exons across 21.9 kb
Protein
544 amino acids
Inheritance
Autosomal recessive
Also known as
SPG49
Previous symbols
SPG56
MANE Select transcript
ENST00000332884.11NM_183075.3
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

  • Hereditary Spastic Paraplegia

    • Hereditary Spastic Paraplegia 56Autosomal recessive

      Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.

      • 2 GenCC submitters rate it definitive or strong
    • Hereditary Spastic Paraplegia (All Types)

      One of 66 genes linked to it

      Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

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 CYP2U1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where CYP2U1 sits. CYP2U1 and 4 genes near it on chromosome 4, from 107,442,505 to 108,442,504.Chromosome 44q25p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2107.6 Mb107.8 Mb108 Mb108.2 Mb108.4 MbPAPSS1: 107,590,276–107,720,395, reverse strandPAPSS1SGMS2: 107,824,563–107,915,047, forward strandSGMS2CYP2U1: 107,931,549–107,953,461, forward strandCYP2U1HADH: 107,989,683–108,035,241, forward strandHADHLEF1: 108,045,592–108,169,198, reverse strandLEF1Diagram of CYP2U1: 5 exons on the forward strand of chromosome 4Exon 1: 6 known disease-causing sitesExon 2: 12 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 1: 107,931,549–107,932,133, 585 basesExon 2: 107,944,970–107,945,605, 636 basesExon 3: 107,947,376–107,947,537, 162 basesExon 4: 107,949,350–107,949,517, 168 basesExon 5: 107,950,245–107,953,461, 3,217 bases123455′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 4.8 kb of the gene's 21.9 kb; 1,635 of those bases code for the protein.

How a genome test reads CYP2U1

24

positions in CYP2U1 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 21.9 kb of CYP2U1, introns included, not only the 4.8 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.). CYP2U1 gene: cytochrome P450 family 2 subfamily U member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/cyp2u1

Vancouver

Dante Labs. CYP2U1 gene: cytochrome P450 family 2 subfamily U member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cyp2u1

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