RecName: Full=Tubulin polyglutamylase TTLL5; AltName: Full=SRC1 and TI - Protein

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Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype. [Mol Vis. 2023]
Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.
Kolawole OU, Gregory-Evans CY, Bikoo R, Huang AZ, Gregory-Evans K. Mol Vis. 2023; 29:329-337. Epub 2023 Dec 15.
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series. [Orphanet J Rare Dis. 2022]
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Oh JK, Vargas Del Valle JG, Lima de Carvalho JR Jr, Sun YJ, Levi SR, Ryu J, Yang J, Nagasaki T, Emanuelli A, Rasool N, et al. Orphanet J Rare Dis. 2022 Apr 1; 17(1):146. Epub 2022 Apr 1.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. [Int J Mol Sci. 2021]
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Smirnov V, Grunewald O, Muller J, Zeitz C, Obermaier CD, Devos A, Pelletier V, Bocquet B, Andrieu C, Bacquet JL, et al. Int J Mol Sci. 2021 Jun 15; 22(12). Epub 2021 Jun 15.

RefSeq genomic sequence
See the genomic reference sequence for the TTLL5 gene (NG_016974.1).
RefSeq protein
See the reference protein sequence for tubulin polyglutamylase TTLL5 (NP_055887.3).

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Q6EMB2 [Domain Mapping of Disease Mut...]
Q6EMB2
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Tubulin polyglutamylase TTLL5; AltName: Full=SRC1 and TIF2-associa...
RecName: Full=Tubulin polyglutamylase TTLL5; AltName: Full=SRC1 and TIF2-associated modulatory protein; Short=STAMP protein; AltName: Full=Tubulin--tyrosine ligase-like protein 5
gi|239938834|sp|Q6EMB2.3|TTLL5_HUMA

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