RecName: Full=Mitochondrial chaperone BCS1; Short=h-BCS1; AltName: Ful - Protein

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Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. [Ann Clin Transl Neurol. 2021]
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, et al. Ann Clin Transl Neurol. 2021 Nov; 8(11):2155-2165. Epub 2021 Oct 18.
BCS1L mutations produce Fanconi syndrome with developmental disability. [J Hum Genet. 2022]
BCS1L mutations produce Fanconi syndrome with developmental disability.
Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, et al. J Hum Genet. 2022 Mar; 67(3):143-148. Epub 2021 Oct 15.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. [Hum Mol Genet. 2019]
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Oláhová M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, et al. Hum Mol Genet. 2019 Nov 15; 28(22):3766-3776.

RefSeq genomic sequence
See the genomic reference sequence for the BCS1L gene (NG_033099.2).
RefSeq genomic sequence
See the genomic reference sequence for the BCS1L gene (NG_008018.1).
RefSeq protein isoforms
See 33 reference sequence protein isoforms for the BCS1L gene.

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Q9Y276 [Domain Mapping of Disease Mut...]
Q9Y276
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

PREDICTED: Homo sapiens muskelin 1 (MKLN1), transcript variant X2, mRNA
PREDICTED: Homo sapiens muskelin 1 (MKLN1), transcript variant X2, mRNA
gi|2217367190|ref|XM_047420401.1|

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Protein