C8orf41 protein [Homo sapiens]

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Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability. [Clin Genet. 2019]
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
Ziegler A, Bader P, McWalter K, Douglas G, Houdayer C, Bris C, Rouleau S, Coutant R, Colin E, Bonneau D. Clin Genet. 2019 Oct; 96(4):354-358. Epub 2019 Jul 17.
Mutation in TTI2 reveals a role for triple T complex in human brain development. [Hum Mutat. 2013]
Mutation in TTI2 reveals a role for triple T complex in human brain development.
Langouët M, Saadi A, Rieunier G, Moutton S, Siquier-Pernet K, Fernet M, Nitschke P, Munnich A, Stern MH, Chaouch M, et al. Hum Mutat. 2013 Nov; 34(11):1472-6. Epub 2013 Sep 10.
Structure of the Human TELO2-TTI1-TTI2 Complex. [J Mol Biol. 2022]
Structure of the Human TELO2-TTI1-TTI2 Complex.
Kim Y, Park J, Joo SY, Kim BG, Jo A, Lee H, Cho Y. J Mol Biol. 2022 Jan 30; 434(2):167370. Epub 2021 Nov 24.

RefSeq genomic sequence
See the genomic reference sequence for the TTI2 gene (NG_033257.1).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the TTI2 gene.

Nucleotide
Nucleotide sequence from coding region
PubMed
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
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Protein