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Gene

CYBC1

cytochrome b-245 chaperone 1

Summary

Cytogenetic location
17q25.3
Coordinates
Chromosome 17: 82,442,586–82,450,752 (GRCh38)
Exons
7 exons across 8.2 kb
Protein
187 amino acids
Also known as
MGC4368, FLJ90469, Eros
Previous symbols
C17orf62
MANE Select transcript
ENST00000306645.10NM_001033046.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Chronic Granulomatous Disease

    • Granulomatous Disease, Chronic, Autosomal Recessive, 5Autosomal recessive
      • 1 GenCC submitter rates it definitive or strong

    • Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

      • 1 GenCC submitter rates it definitive or strong
    • Phagocyte Bactericidal Dysfunction

      Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas.

      • 1 GenCC submitter rates it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • 1 GenCC submitter rates it definitive or strong

How CYBC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 17, with a bracket where CYBC1 sits. CYBC1 and 29 genes near it on chromosome 17, from 81,946,669 to 82,946,668.Chromosome 1717q25.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.382 Mb82.2 Mb82.4 Mb82.6 Mb82.8 MbMYADML2: 81,939,645–81,947,233, reverse strandMYADML2NOTUM: 81,952,507–81,963,328, reverse strandNOTUMASPSCR1: 81,976,807–82,018,698, forward strandCENPX: 82,018,590–82,024,107, reverse strandLRRC45: 82,023,269–82,031,153, forward strandRAC3: 82,031,192–82,034,218, forward strandDCXR: 82,035,136–82,037,777, reverse strandDCXRRFNG: 82,047,902–82,051,871, reverse strandRFNGGPS1: 82,050,691–82,058,063, forward strandGPS1DUS1L: 82,057,506–82,066,206, reverse strandDUS1LFASN: 82,076,900–82,098,294, reverse strandFASNCCDC57: 82,101,458–82,212,885, reverse strandCCDC57SLC16A3: 82,217,878–82,261,176, forward strandSLC16A3CSNK1D: 82,239,023–82,273,730, reverse strandCSNK1DCD7: 82,313,564–82,317,625, reverse strandCD7SECTM1: 82,321,024–82,335,518, reverse strandSECTM1TEX19: 82,359,246–82,363,775, forward strandTEX19UTS2R: 82,368,266–82,377,709, forward strandUTS2ROGFOD3: 82,389,210–82,418,637, reverse strandOGFOD3HEXD: 82,418,318–82,442,647, forward strandHEXDCYBC1: 82,442,586–82,450,752, reverse strandCYBC1NARF: 82,458,180–82,490,542, forward strandNARFFOXK2: 82,519,248–82,644,662, forward strandFOXK2WDR45B: 82,614,562–82,648,553, reverse strandWDR45BRAB40B: 82,654,543–82,698,734, reverse strandRAB40BFN3KRP: 82,716,693–82,730,873, forward strandFN3KRPFN3K: 82,735,149–82,751,198, forward strandFN3KTBCD: 82,751,845–82,945,918, forward strandTBCDZNF750: 82,829,434–82,840,030, reverse strandZNF750QTGAL: 82,942,149–83,051,829, reverse strandQTGALDiagram of CYBC1: 7 exons on the reverse strand of chromosome 17Exon 7: 82,442,586–82,444,124, 1,539 basesExon 6: 82,444,447–82,444,591, 145 basesExon 5: 82,445,864–82,445,960, 97 basesExon 4: 82,446,623–82,446,696, 74 basesExon 3: 82,447,580–82,447,621, 42 basesExon 2: 82,449,170–82,449,292, 123 basesExon 1: 82,450,700–82,450,752, 53 bases76543215′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 2.1 kb of the gene's 8.2 kb; 564 of those bases code for the protein.

Sequencing CYBC1

10Moderate

How hard CYBC1 is to sequence with short reads, out of 100

Some of CYBC1's exons sit where short reads can miss or misplace a change.

What adds to it: the share of CYBC1's exons in each kind of hard region

  • Mappability6.4%
  • Homology0%
  • Repeats13%
  • GC content56%
  • Reference coverage0%

A Dante Labs score from our own research, built on NIST's Genome in a Bottle maps of hard-to-sequence regions.How it's scored

1

position in CYBC1 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 8.2 kb of CYBC1, introns included, not only the 2.1 kb of exons.

ClinVar pathogenic variants (1)

The CYBC1 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

  • Likely pathogenic 1
VariantConditionsClinVar classificationReview status
NM_001033046.4(CYBC1):c.444-1G>C (opens in a new tab)granulomatous disease, chronic, autosomal recessive, 5Likely pathogenic1 star out of 4 criteria provided, single submitter

Genes linked to the same conditions

Traits linked to CYBC1

The Human Phenotype Ontology lists these as features of the rare conditions CYBC1 can cause. Each trait's page lists the other genes linked to it.

External links

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 2026-10-18: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). CYBC1 gene: cytochrome b-245 chaperone 1. Retrieved 18 October 2026, from https://dantelabs.com/genes/cybc1

Vancouver

Dante Labs. CYBC1 gene: cytochrome b-245 chaperone 1 [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/cybc1

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