Aliases for BCS1L Gene
Aliases for BCS1L Gene
- BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone 2 3 5
- BC1 (Ubiquinol-Cytochrome C Reductase) Synthesis-Like 2 3
- BCS1-Like Protein 3 4
- H-BCS1 3 4
- BCS1 3 4
- Mitochondrial Complex III Assembly 3
- Mitochondrial Chaperone BCS1 3
- BCS1 (Yeast Homolog)-Like 2
- BCS1-Like (S. Cerevisiae) 2
- Bjornstad Syndrome 2
- BCS1-Like (Yeast) 2
External Ids for BCS1L Gene
- HGNC: 1020
- Entrez Gene: 617
- Ensembl: ENSG00000074582
- OMIM: 603647
- UniProtKB: Q9Y276
Previous GeneCards Identifiers for BCS1L Gene
- GC02P217540
- GC02P218245
- GC02P219488
- GC02P219727
- GC02P219726
- GC02P219349
- GC02P219231
- GC02P219523
- GC02P211377
Summaries for BCS1L Gene
-
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]
GeneCards Summary for BCS1L Gene
BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone) is a Protein Coding gene. Diseases associated with BCS1L include Gracile Syndrome and Bjornstad Syndrome. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include RNA binding and RNA helicase activity.
UniProtKB/Swiss-Prot for BCS1L Gene
-
Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.
Additional gene information for BCS1L Gene
- Monarch Initiative
- Search for BCS1L at DataMed
- Search for BCS1L at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCS1L Gene
Genomics for BCS1L Gene
GeneHancer (GH) Regulatory Elements for BCS1L Gene
Promoters and enhancers for BCS1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BCS1L on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for BCS1L Gene
Genomic Locations for BCS1L Gene
- chr2:218,658,764-218,663,443
- (GRCh38/hg38)
- Size:
- 4,680 bases
- Orientation:
- Plus strand
- chr2:219,523,487-219,528,166
- (GRCh37/hg19)
Genomic View for BCS1L Gene
Genes around BCS1L on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q35 by Entrez Gene
- 2q35 by HGNC
- 2q35 by Ensembl
BCS1L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BCS1L Gene
Proteins for BCS1L Gene
-
Protein details for BCS1L Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y276-BCS1_HUMAN
- Recommended name:
- Mitochondrial chaperone BCS1
- Protein Accession:
- Q9Y276
- B3KTW9
- Q7Z2V7
Protein attributes for BCS1L Gene
- Size:
- 419 amino acids
- Molecular mass:
- 47534 Da
- Quaternary structure:
-
- Interacts with LETM1.
Protein Expression for BCS1L Gene
Post-translational modifications for BCS1L Gene
Other Protein References for BCS1L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for BCS1L
- Invitrogen Antibodies for BCS1L
- GeneTex BCS1L Antibody for BCS1L
-
Santa Cruz Biotechnology (SCBT) Antibodies for BCS1L
Protein Products
-
OriGene Purified Proteins for BCS1L
- Search Origene for MassSpec and Protein Over-expression Lysates for BCS1L
- Origene Custom Protein Services for BCS1L
- antibodies-online: Search results for 8 available BCS1L Proteins ranked by validation data
- Compare Top BCS1L Proteins
-
Quality Products:
- Search GeneTex for Proteins for BCS1L
Assay Products
- antibodies-online: Search results for 5 available BCS1L Elisa Kits ranked by validation data
- Compare Top BCS1L Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for BCS1L Gene
Domains & Families for BCS1L Gene
Gene Families for BCS1L Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for BCS1L Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for BCS1L Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y276- Family:
-
- Belongs to the AAA ATPase family. BCS1 subfamily.
Function for BCS1L Gene
Molecular function for BCS1L Gene
- UniProtKB/Swiss-Prot Function:
- Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.
- GENATLAS Biochemistry:
- yeast BCS1,inner mitochondrial membrane,involved in the biogenesis of mitochondrial complex III,homolog
Phenotypes From GWAS Catalog for BCS1L Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 18628306 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for BCS1L Gene
- MGI mutant phenotypes for BCS1L:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for BCS1L:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for BCS1L
-
CRISPR Products
-
OriGene CRISPR knockouts for BCS1L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCS1L
- genomics-online: gRNA clones - Search results for available BCS1L gene related products
- Applied Biological Materials CRISPR for BCS1L
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCS1L
- GenScript: Design CRISPR guide RNA sequences for BCS1L
miRNA for BCS1L Gene
- miRTarBase miRNAs that target BCS1L
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for BCS1L
- Browse OriGene Inhibitory RNA Products For BCS1L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCS1L
- genomics-online: shRNA clones - Search results for available BCS1L gene related products
Clone Products
-
OriGene ORF clones in human for BCS1L
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BCS1L
- VectorBuilder custom plasmid, inducible vectors for BCS1L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BCS1L
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCS1L
- genomics-online: cdna clones - Search results for available BCS1L gene related products
- orf clones - Search results for available BCS1L gene related products
- Applied Biological Materials Clones for BCS1L
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for BCS1L
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BCS1L Gene
Localization for BCS1L Gene
Subcellular locations from UniProtKB/Swiss-Prot for BCS1L Gene
- Mitochondrion inner membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 3 |
| extracellular | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA,IEA | 18628306 |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0005750 | mitochondrial respiratory chain complex III | TAS | 9878253 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCS1L Gene
Pathways & Interactions for BCS1L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Mitochondrial protein import | ||
Pathways by source for BCS1L Gene
2 Reactome pathways for BCS1L Gene
Interacting Proteins for BCS1L Gene
GPS-Prot Interaction Network for BCS1L
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007005 | mitochondrion organization | IMP | 18628306 |
| GO:0032981 | mitochondrial respiratory chain complex I assembly | IMP | 18628306 |
| GO:0033617 | mitochondrial respiratory chain complex IV assembly | IMP | 18628306 |
| GO:0034551 | mitochondrial respiratory chain complex III assembly | IEA,IMP | 18628306 |
No data available for SIGNOR curated interactions for BCS1L Gene
Drugs & Compounds for BCS1L Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Fe2+ |
|
15438-31-0 |
|
Transcripts for BCS1L Gene
mRNA/cDNA for BCS1L Gene
- (261) Selected AceView cDNA sequences:
- (9) Additional mRNA sequences :
- (14) REFSEQ mRNAs :
- (21) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000359273 1454 bps (uc002viq.3)
- ENST00000392109 1583 bps (uc010fvv.4)
- ENST00000392110 1525 bps (uc010fvu.4)
- ENST00000392111 1584 bps (uc002vip.4)
- ENST00000412366 1430 bps (uc002vis.5)
Unigene Clusters for BCS1L Gene
CRISPR Products
-
OriGene CRISPR knockouts for BCS1L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BCS1L
- genomics-online: gRNA clones - Search results for available BCS1L gene related products
- Applied Biological Materials CRISPR for BCS1L
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BCS1L
- GenScript: Design CRISPR guide RNA sequences for BCS1L
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for BCS1L
- Browse OriGene Inhibitory RNA Products For BCS1L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCS1L
- genomics-online: shRNA clones - Search results for available BCS1L gene related products
Clone Products
-
OriGene ORF clones in human for BCS1L
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BCS1L
- VectorBuilder custom plasmid, inducible vectors for BCS1L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BCS1L
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BCS1L
- genomics-online: cdna clones - Search results for available BCS1L gene related products
- orf clones - Search results for available BCS1L gene related products
- Applied Biological Materials Clones for BCS1L
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - |
| ExUns: | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11a | · | 11b |
|---|---|---|---|---|---|---|---|---|---|---|---|
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Expression for BCS1L Gene
This gene is overexpressed in Heart (7.0), Salivary gland (6.6), and Bone (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCS1L Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of BCS1L Gene:
BCS1LSOURCE GeneReport for Unigene cluster for BCS1L Gene:
Hs.471401mRNA Expression by UniProt/SwissProt for BCS1L Gene:
Q9Y276-BCS1_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for BCS1L Gene
- Nervous system(4.9)
- Muscle(4.5)
- Intestine(4.3)
- Skin(2.4)
- Bone(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BCS1L Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- larynx
- meninges
- mouth
- neck
- nose
- pituitary gland
- salivary gland
- skull
- tongue
- vocal cord
Thorax:
- breast
- esophagus
- heart
- heart valve
- lung
Abdomen:
- abdominal wall
- adrenal gland
- biliary tract
- gallbladder
- kidney
- liver
- pancreas
- spleen
Pelvis:
- ovary
- penis
- prostate
- testicle
- uterus
- vagina
- vulva
Limb:
- arm
- digit
- finger
- foot
- hand
- lower limb
- nail
- toe
- upper limb
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal cord
- sweat gland
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for BCS1L
-
OriGene qPCR primer pairs for BCS1L
- genomics-online: primer clones - Search results for available BCS1L gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BCS1L Gene
Orthologs for BCS1L Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BCS1L 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BCS1L 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BCS1L 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bcs1l 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Bcs1l 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BCS1L 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BCS1L 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BCS1L 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | bcs1l 33 |
|
||
| Str.11802 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | bcs1l-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | bcs1l 34 33 |
|
OneToOne | |
| zgc56205 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.13409 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004266 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG4908 34 35 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | bcs-1 34 33 |
|
OneToOne | |
| F54C9.6 35 |
|
|
|||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACR200C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BCS1 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E02487g 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC644.07 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| Cin.8680 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.8680 33 |
|
- Species where no ortholog for BCS1L was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for BCS1L Gene
- ENSEMBL:
- Gene Tree for BCS1L (if available)
- TreeFam:
- Gene Tree for BCS1L (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for BCS1L: view image
Paralogs for BCS1L Gene
(1) SIMAP similar genes for BCS1L Gene using alignment to 9 proteins:
- BCS1_HUMAN
- A8BSR7_HUMAN
- C9J1S9_HUMAN
- C9J4Q9_HUMAN
- C9J8G3_HUMAN
- C9JAS4_HUMAN
- H7BZF6_HUMAN
- H7C492_HUMAN
- Q53RT4_HUMAN
No data available for Paralogs for BCS1L Gene
Variants for BCS1L Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057516255 | likely-pathogenic, GRACILE syndrome | 218,661,905(+) | A/AA | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs1057516346 | likely-pathogenic, pathogenic, GRACILE syndrome, not provided | 218,662,680(+) | G/T | splice_donor_variant | |
| rs1057516518 | likely-pathogenic, GRACILE syndrome | 218,662,964(+) | CCC/CCCC | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs1057516786 | likely-pathogenic, GRACILE syndrome | 218,663,369(+) | GAG/G | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs1057516802 | likely-pathogenic, GRACILE syndrome | 218,661,954(+) | G/A | splice_donor_variant |
Residual Variation Intolerance Score:
57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.93;
67.86% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BCS1L Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BCS1L Gene
Disorders for BCS1L Gene
(18) MalaCards diseases for BCS1L Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| gracile syndrome |
|
|
| bjornstad syndrome |
|
|
| mitochondrial complex iii deficiency, nuclear type 1 |
|
|
| mitochondrial complex iii deficiency |
|
|
| leigh syndrome |
|
Search BCS1L in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BCS1_HUMAN- GRACILE syndrome (GRACILE) [MIM:603358]: GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. {ECO:0000269 PubMed:12215968, ECO:0000269 PubMed:17314340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269 PubMed:11528392, ECO:0000269 PubMed:12910490, ECO:0000269 PubMed:17314340, ECO:0000269 PubMed:17403714, ECO:0000269 PubMed:18628306, ECO:0000269 PubMed:19162478, ECO:0000269 PubMed:22991165}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Bjoernstad syndrome (BJS) [MIM:262000]: An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. {ECO:0000269 PubMed:17314340, ECO:0000269 PubMed:24172246}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for BCS1L
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for BCS1L Gene
Publications for BCS1L Gene
- Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. (PMID: 17314340) Hinson JT … Seidman CE (The New England journal of medicine 2007) 2 3 4 22 58
- Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. (PMID: 17403714) Fernandez-Vizarra E … Zeviani M (Human molecular genetics 2007) 3 4 22 58
- GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. (PMID: 12215968) Visapää I … Peltonen L (American journal of human genetics 2002) 3 4 22 58
- A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. (PMID: 11528392) de Lonlay P … Rötig A (Nature genetics 2001) 3 4 22 58
- Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. (PMID: 9878253) Petruzzella V … Zeviani M (Genomics 1998) 2 3 4 58
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