BCS1L Chromosome 2
BCS1 ubiquinol-cytochrome c reductase complex chaperone
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What This Gene Does
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]
Gene Info
Gene Group
"AAA ATPases|Mitochondrial respiratory chain complex assembly factors"
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000074582
Associated Conditions (17)
Neuromuscular disease
Leigh syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
BCS1L-related disorder
Pili torti-deafness syndrome
Inborn genetic diseases
Colorectal cancer
Intellectual disability
Microcephaly
Sparse hair
Movement disorder
Severe intellectual disability
Neonatal encephalopathy
Autosomal recessive BCS1L-related disorders
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
Clear cell carcinoma of kidney
Key Variants
RS1064796486
Conflicting classifications of pathogenicity
Neuromuscular disease, Neuromuscular disease
Health Risk
RS112329020
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Health Risk
RS121908574
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome, GRACILE syndrome
Health Risk
RS140812286
Conflicting classifications of pathogenicity
GRACILE syndrome, Pili torti-deafness syndrome, GRACILE syndrome
Health Risk
RS142540289
Conflicting classifications of pathogenicity
Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Health Risk
RS144200704
Conflicting classifications of pathogenicity
Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome, GRACILE syndrome
Health Risk
RS145989550
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Health Risk
RS146731467
Conflicting classifications of pathogenicity
Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Health Risk
RS148278887
Conflicting classifications of pathogenicity
BCS1L-related disorder, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome
Health Risk
RS148302981
Conflicting classifications of pathogenicity
GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome
Health Risk
RS149382836
Conflicting classifications of pathogenicity
Inborn genetic diseases, Colorectal cancer, Inborn genetic diseases
Health Risk
RS2469868875
Conflicting classifications of pathogenicity
Health Risk
All Variants (141)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064796486 | Health Risk | Conflicting classifications of pathogenicity | Neuromuscular disease, Neuromuscular disease |
| RS112329020 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome |
| RS121908574 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome, GRACILE syndrome |
| RS140812286 | Health Risk | Conflicting classifications of pathogenicity | GRACILE syndrome, Pili torti-deafness syndrome, GRACILE syndrome |
| RS142540289 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 |
| RS144200704 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome, GRACILE syndrome |
| RS145989550 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome |
| RS146731467 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 |
| RS148278887 | Health Risk | Conflicting classifications of pathogenicity | BCS1L-related disorder, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome |
| RS148302981 | Health Risk | Conflicting classifications of pathogenicity | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome |
| RS149382836 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Colorectal cancer, Inborn genetic diseases |
| RS2469868875 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367721351 | Health Risk | Conflicting classifications of pathogenicity | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome |
| RS368035069 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome, GRACILE syndrome |
| RS372926306 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375876694 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Microcephaly, Sparse hair |
| RS386833855 | Health Risk | Conflicting classifications of pathogenicity | GRACILE syndrome, GRACILE syndrome |
| RS745861723 | Health Risk | Conflicting classifications of pathogenicity | Pili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 |
| RS754414354 | Health Risk | Conflicting classifications of pathogenicity | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome |
| RS755305281 | Health Risk | Conflicting classifications of pathogenicity | GRACILE syndrome, GRACILE syndrome |
| RS756932413 | Health Risk | Conflicting classifications of pathogenicity | GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1 |
| RS775793638 | Health Risk | Conflicting classifications of pathogenicity | GRACILE syndrome, Pili torti-deafness syndrome, GRACILE syndrome |
| RS776363896 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome |
| RS77729067 | Health Risk | Conflicting classifications of pathogenicity | GRACILE syndrome, BCS1L-related disorder, GRACILE syndrome |
| RS777854606 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779504946 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781666793 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome, GRACILE syndrome |
| RS886055627 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 |
| RS898301590 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, BCS1L-related disorder |
| RS1006907254 | Health Risk | Likely pathogenic | GRACILE syndrome, GRACILE syndrome |
| RS1057516346 | Health Risk | Likely pathogenic | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome |
| RS1057516518 | Health Risk | Likely pathogenic | GRACILE syndrome, GRACILE syndrome |
| RS1057516786 | Health Risk | Likely pathogenic | GRACILE syndrome, GRACILE syndrome |
| RS1057516954 | Health Risk | Likely pathogenic | GRACILE syndrome, GRACILE syndrome |
| RS1057522861 | Health Risk | Likely pathogenic | — |
| RS1165110929 | Health Risk | Likely pathogenic | — |
| RS1182790091 | Health Risk | Likely pathogenic | Pili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 |
| RS121908573 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1 |
| RS121908575 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome, GRACILE syndrome |
| RS140405116 | Health Risk | Likely pathogenic | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome |
| RS1459378570 | Health Risk | Likely pathogenic | Mitochondrial complex III deficiency nuclear type 1, Mitochondrial complex III deficiency nuclear type 1 |
| RS1470234875 | Health Risk | Likely pathogenic | — |
| RS1553595997 | Health Risk | Likely pathogenic | GRACILE syndrome, GRACILE syndrome |
| RS1553596761 | Health Risk | Likely pathogenic | GRACILE syndrome, GRACILE syndrome |
| RS1553596929 | Health Risk | Likely pathogenic | GRACILE syndrome, GRACILE syndrome |
| RS1553596996 | Health Risk | Likely pathogenic | GRACILE syndrome, GRACILE syndrome |
| RS1553597934 | Health Risk | Likely pathogenic | GRACILE syndrome, Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1 |
| RS1553598145 | Health Risk | Likely pathogenic | GRACILE syndrome, GRACILE syndrome |
| RS1559316590 | Health Risk | Likely pathogenic | Pili torti-deafness syndrome, Pili torti-deafness syndrome |
| RS1575108396 | Health Risk | Likely pathogenic | — |