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Gene : BCS1L Homo sapiens

Name  ? BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone Cytological Location  2q35
Brief Description  BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
description  This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]
  • synonyms:
  • BCS1-like (yeast),
  • GRACILE,
  • AF026849,
  • Hs.6719,
  • HGNC:1020,
  • BCS1,
  • NM_004328,
  • BCS1 (yeast homolog)-like,
  • h-BCS1,
  • h-BCS,
  • Bjornstad syndrome,
  • uc002viq.3,
  • Hs.6719,
  • MC3DN1,
  • PTD,
  • OTTHUMG00000133114,
  • GRACILE syndrome,
  • BCS,
  • BC1 (ubiquinol-cytochrome c reductase) synthesis-like,
  • FLNMS,
  • BJS,
  • BCS1L,
  • BJS,
  • BCS1-like (S. cerevisiae),
  • BCS,
  • h-BCS
  • identifiers:
  • 617,
  • ENSG00000074582,
  • BCS1L

Genome feature

Region: gene ? Length: 3788  
Location: 2:218659656-218663443 Cyto location: 2q35


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Disease

4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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2011 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results