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Gene

BCS1L

BCS1 ubiquinol-cytochrome c reductase complex chaperone

Summary

Cytogenetic location
2q35
Coordinates
Chromosome 2: 218,659,683–218,663,443 (GRCh38)
Exons
8 exons across 3.8 kb
Protein
419 amino acids
Also known as
Hs.6719, BCS, h-BCS, BJS
MANE Select transcript
ENST00000359273.8NM_001079866.2
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

    • Primary Mitochondrial Disease

      • Mitochondrial Respiratory Chain Complex Deficiency

        One of 61 genes linked to it

        Isolated deficiencies of complex I, II, III, IV or V, caused by variants in nuclear or mitochondrial genes, which can affect the brain, muscles, heart, liver and other energy-demanding organs.

        • 4 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing can end a diagnostic search and guide surveillance of affected organs and avoidance of drugs toxic to mitochondria.

    How BCS1L is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 2, with a bracket where BCS1L sits. BCS1L and 29 genes near it on chromosome 2, from 218,161,563 to 219,161,562.Chromosome 22q35p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3218.2 Mb218.4 Mb218.6 Mb218.8 Mb219 MbCXCR1: 218,162,841–218,166,969, reverse strandCXCR1ARPC2: 218,216,630–218,254,356, forward strandARPC2GPBAR1: 218,259,496–218,263,861, forward strandGPBAR1AAMP: 218,264,125–218,270,889, reverse strandAAMPPNKD: 218,269,651–218,347,057, forward strandPNKDTMBIM1: 218,274,193–218,292,589, reverse strandTMBIM1CATIP: 218,356,838–218,369,962, forward strandCATIPSLC11A1: 218,382,006–218,396,906, forward strandSLC11A1CTDSP1: 218,397,136–218,405,942, forward strandCTDSP1VIL1: 218,419,083–218,453,295, forward strandVIL1USP37: 218,450,251–218,568,768, reverse strandUSP37CNOT9: 218,568,575–218,597,080, forward strandCNOT9PLCD4: 218,607,855–218,637,186, forward strandPLCD4ZNF142: 218,633,329–218,659,655, reverse strandZNF142BCS1L: 218,659,683–218,663,443, forward strandBCS1LRNF25: 218,662,081–218,672,009, reverse strandRNF25STK36: 218,672,027–218,702,717, forward strandSTK36TTLL4: 218,710,773–218,759,724, forward strandTTLL4CYP27A1: 218,781,688–218,825,335, forward strandCYP27A1PRKAG3: 218,819,050–218,832,086, reverse strandPRKAG3WNT6: 218,859,795–218,874,233, forward strandWNT6WNT10A: 218,880,852–218,899,581, forward strandWNT10ACDK5R2: 218,959,666–218,962,155, forward strandCDK5R2FEV: 218,981,087–218,985,566, reverse strandFEVCRYBA2: 218,990,189–218,994,270, reverse strandCRYBA2CFAP65: 219,002,846–219,041,527, reverse strandCFAP65IHH: 219,054,424–219,061,064, reverse strandIHHNHEJ1: 219,069,355–219,160,869, reverse strandNHEJ1: 219,075,329–219,170,827, reverse strandSLC23A3: 219,161,465–219,170,095, reverse strandSLC23A3Diagram of BCS1L: 8 exons on the forward strand of chromosome 2Exon 2: 21 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 4: 18 known disease-causing sitesExon 5: 6 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 7: 9 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 1: 218,659,683–218,659,743, 61 basesExon 2: 218,660,939–218,661,307, 369 basesExon 3: 218,661,406–218,661,545, 140 basesExon 4: 218,661,759–218,661,953, 195 basesExon 5: 218,662,197–218,662,260, 64 basesExon 6: 218,662,510–218,662,679, 170 basesExon 7: 218,662,883–218,663,000, 118 basesExon 8: 218,663,134–218,663,443, 310 bases123456785′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 1.4 kb of the gene's 3.8 kb; 1,260 of those bases code for the protein.

    How a genome test reads BCS1L

    91

    positions in BCS1L 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 3.8 kb of BCS1L, introns included, not only the 1.4 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.). BCS1L gene: BCS1 ubiquinol-cytochrome c reductase complex chaperone. Retrieved 17 October 2026, from https://dantelabs.com/genes/bcs1l

    Vancouver

    Dante Labs. BCS1L gene: BCS1 ubiquinol-cytochrome c reductase complex chaperone [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bcs1l

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