RecName: Full=THO complex subunit 6; AltName: Full=Functional spliceos - Protein

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Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. [Birth Defects Res. 2022]
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Ruaud L, Roux N, Boutaud L, Bessières B, Ageorges F, Achaiaa A, Bole C, Nitschke P, Masson C, Vekemans M, et al. Birth Defects Res. 2022 Jun; 114(10):499-504. Epub 2022 Apr 15.
THOC6 Intellectual Disability Syndrome. [GeneReviews(®). 1993]
THOC6 Intellectual Disability Syndrome.
Lemire G, Innes AM, Boycott KM. GeneReviews(®). 1993-2024. 2020 Aug 13
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. [Hum Mol Genet. 2019]
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Mattioli F, Isidor B, Abdul-Rahman O, Gunter A, Huang L, Kumar R, Beaulieu C, Gecz J, Innes M, Mandel JL, et al. Hum Mol Genet. 2019 Mar 15; 28(6):952-960.

RefSeq genomic sequence
See the genomic reference sequence for the THOC6 gene (NG_052595.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the THOC6 gene.

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Q86W42 [Domain Mapping of Disease Mut...]
Q86W42
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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PANTHER Classification System
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=THO complex subunit 6; AltName: Full=Functional spliceosome-associ...
RecName: Full=THO complex subunit 6; AltName: Full=Functional spliceosome-associated protein 35; Short=fSAP35; AltName: Full=WD repeat-containing protein 58
gi|74759455|sp|Q86W42.1|THOC6_HUMAN

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