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Protein-coding gene in the species Homo sapiens
(BCS1L), also known as BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone (h-BCS1), is a protein that in humans is encoded by the BCS1L gene
BCS1L
Medical condition
mutations of the BCS1L gene. The protein product of this gene is BCS1L, which plays an important role in oxidative phosphorylation. Mutated BCS1L increases production
Björnstad_syndrome
Medical condition
but not nearly as much as in Finland. It is caused by a mutation in the BCS1L gene and it occurs in approximately 1 out of 50,000 live births in Finnish
GRACILE_syndrome
Abnormal accumulation of iron in the body
Acaeruloplasminaemia (very rare) 604290 caeruloplasmin Congenital atransferrinaemia (very rare) 209300 transferrin GRACILE syndrome (very rare) 603358 BCS1L
Iron_overload
Slenderness of build
neurons in the medulla oblongata "GRACILE syndrome", is associated with a BCS1L mutation The gracilis muscle is a thin, flat muscle of the medial thigh
Gracility
Human chromosome
encoding protein UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 BCS1L: GRACILE (Finnish heritage disease) related gene BMPR2: bone morphogenetic
Chromosome_2
HGNC:20893; Q6W2J9 1498 BCORL1 HGNC:25657; Q5H9F3 1499 BCR HGNC:1014; P11274 1500 BCS1L HGNC:1020; Q9Y276 1501 BDH1 HGNC:1027; Q02338 1502 BDH2 HGNC:32389; Q9BUT1
List of human protein-coding genes 1
List_of_human_protein-coding_genes_1
Class of enzymes
septo-optic dysplasia and multisystem disorders. However, mutations in BCS1L, a gene responsible for proper maturation of complex III, can result in
Coenzyme Q – cytochrome c reductase
Coenzyme_Q_–_cytochrome_c_reductase
1:20,000,000 biotinidase deficiency BTD 1:110,000,000 Björnstad syndrome BCS1L 1:260,000,000 Blepharophimosis intellectual disability syndromes Bloom syndrome
List_of_genetic_disorders
Protein family
and cancer. AFG3L2; ATAD1; ATAD2; ATAD2B; ATAD3A; ATAD3B; ATAD3C; ATAD5; BCS1L; CHTF18; CLBP; CLPP; CLPX; FIGN; FIGNL1; FIGNL2; IQCA1; KATNA1; KATNAL1;
AAA_proteins
Metabolic disease
nuclear genes associated with Leigh syndrome are located on chromosome 2 (BCS1L and NDUFA10); chromosome 5 (SDHA, NDUFS4, NDUFAF2, and NDUFA2); chromosome
Leigh_syndrome
Protein superfamily
protein and Qcr10 into pre-Complex III is then driven by the AAA-ATPase BCS1L, completing the assembly of complex III. FMC1 acts as an assembly factor
LYRM_protein
Muscle disorders caused by mitochondrial dysfunction
MT GD: 516020 Mitochondrial complex III deficiency, nuclear type (MC3DN) BCS1L, TTC19, UQCRQ, UQCRC2, CYC1, UQCC2, LYRM7, UQCC3, UQCRFS1 AR PS124000 Mitochondrial
Mitochondrial_myopathy
Protein-coding gene in the species Homo sapiens
maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L". Journal of Cell Science. 121 (Pt 15): 2588–600. doi:10.1242/jcs.026625
LETM1
Protein-coding gene in the species Homo sapiens
addition to co-complexes, UQCRFS1 has protein-protein interactions with UQCRB, BCS1L, COX6B1, UQCRQ, NDUFA9, and other proteins. GRCh38: Ensembl release 89:
UQCRFS1
KCNK9 Birt–Hogg–Dubé syndrome; 135150; FLCN Björnstad syndrome; 262000; BCS1L Bladder cancer; 109800; KRAS Bladder cancer; 109800; RB1 Bladder cancer
List_of_OMIM_disorder_codes
BCS1L
BCS1L
BCS1L
BCS1L
Girl/Female
Hindu
Female
English
Latin name SYLVA means "from the forest."
Boy/Male
Irish
ean meaning “â€birdâ€â€ and suggests “â€birdlikeâ€â€ or “â€freedom of spirit.â€â€ A soldier and a prince Enda was converted by his sister, Saint Fanchea. He renounced his dreams of conquest and decided to marry one of the girls in his sister’s convent. When his financé died suddenly the night before their wedding, he surrendered his throne and a life of worldly glory to become a monk. He made a pilgrimage to Rome and was ordained there before returning to establish ten monasteries on the Aran Islands, off the west coast of Ireland. The name is used for boys and girls.
Boy/Male
Hindu, Indian, Sanskrit, Tamil
Beloved of Shri (Lord Vishnu)
Boy/Male
Hindu
Son of Nand ji (Krishna)
Girl/Female
Indian
Hibiscus
Boy/Male
Muslim
Name of a precious stone
Surname or Lastname
French
French : from Old French denier, originally the name of a copper coin, later a term for money in general, hence probably a metonymic occupational name for a moneyer or minter.English : variant spelling of Denyer, cognate with 1.
Boy/Male
Tamil
Ocean, Sea, Stream, Wave
Boy/Male
Hindu, Indian, Marathi, Sanskrit, Telugu
Delighting
BCS1L
BCS1L
BCS1L
BCS1L
BCS1L