RecName: Full=Kelch-like protein 40; AltName: Full=Kelch repeat and BT - Protein

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Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8. [Orphanet J Rare Dis. 2022]
Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.
Yuan H, Wang Q, Zeng X, He P, Xu W, Guo H, Liu Y, Lin Y. Orphanet J Rare Dis. 2022 Apr 4; 17(1):149. Epub 2022 Apr 4.
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8. [Mol Genet Genomic Med. 2021]
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
Yi S, Zhang Y, Qin Z, Yi S, Zheng H, Luo J, Li Q, Wang J, Yang Q, Li M, et al. Mol Genet Genomic Med. 2021 Jun; 9(6):e1683. Epub 2021 May 12.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. [Cell. 2021]
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, et al. Cell. 2021 May 27; 184(11):3022-3040.e28. Epub 2021 May 6.

RefSeq genomic sequence
See the genomic reference sequence for the KLHL40 gene (NG_033035.1).
RefSeq protein
See the reference protein sequence for kelch-like protein 40 (NP_689606.2).

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Q2TBA0 [Domain Mapping of Disease Mut...]
Q2TBA0
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Kelch-like protein 40; AltName: Full=Kelch repeat and BTB domain-c...
RecName: Full=Kelch-like protein 40; AltName: Full=Kelch repeat and BTB domain-containing protein 5; AltName: Full=Sarcosynapsin
gi|125950763|sp|Q2TBA0.2|KLH40_HUMA

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