RecName: Full=Superkiller complex protein 3; Short=Ski3; AltName: Full - Protein

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Expanding the clinical spectrum in trichohepatoenteric syndrome. [Am J Med Genet A. 2021]
Expanding the clinical spectrum in trichohepatoenteric syndrome.
Dorum S, Gorukmez O. Am J Med Genet A. 2021 Oct; 185(10):2873-2877. Epub 2021 May 26.
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families. [Am J Med Genet A. 2018]
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Fabre A, Petit LM, Hansen LF, Wewer AV, Esteve C, Chaix C, Bourgeois P, Badens C, Paerregaard A. Am J Med Genet A. 2018 Mar; 176(3):727-732. Epub 2018 Jan 31.
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. [BMC Med Genet. 2017]
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
Kinnear C, Glanzmann B, Banda E, Schlechter N, Durrheim G, Neethling A, Nel E, Schoeman M, Johnson G, van Helden PD, et al. BMC Med Genet. 2017 Mar 14; 18(1):26. Epub 2017 Mar 14.

RefSeq genomic sequence
See the genomic reference sequence for the SKIC3 gene (NG_023414.1).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the SKIC3 gene.

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Related structures

Q6PGP7 [Domain Mapping of Disease Mut...]
Q6PGP7
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Superkiller complex protein 3; Short=Ski3; AltName: Full=Tetratric...
RecName: Full=Superkiller complex protein 3; Short=Ski3; AltName: Full=Tetratricopeptide repeat protein 37; Short=TPR repeat protein 37; AltName: Full=Tricho-hepatic-enteric syndrome protein; Short=Thespin
gi|74758339|sp|Q6PGP7.1|SKI3_HUMAN

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