tubulin polyglutamylase TTLL5 [Homo sapiens]

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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 mRNA
See reference mRNA sequence for the TTLL5 gene (NM_015072.5).

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NP_055887 [Domain Mapping of Disease Mut...]
NP_055887
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Golgi reassembly-stacking protein 1 isoform X3 [Homo sapiens]
Golgi reassembly-stacking protein 1 isoform X3 [Homo sapiens]
gi|2462591953|ref|XP_054203531.1|

Protein
we97e07.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2349060 3', mRNA se...
we97e07.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2349060 3', mRNA sequence
gi|5364490|gnl|dbEST|2854001|gb|AI7 .1|

Nucleotide
IB1523 Infant brain, Bento Soares Homo sapiens cDNA 3'end, mRNA sequence
IB1523 Infant brain, Bento Soares Homo sapiens cDNA 3'end, mRNA sequence
gi|517707|gnl|dbEST|41265|gb|T15545

Nucleotide
rRNA methyltransferase 1, mitochondrial precursor [Mus musculus]
rRNA methyltransferase 1, mitochondrial precursor [Mus musculus]
gi|89337263|ref|NP_663408.2|

Protein
PREDICTED: Homo sapiens golgi reassembly stacking protein 1 (GORASP1), transcrip...
PREDICTED: Homo sapiens golgi reassembly stacking protein 1 (GORASP1), transcript variant X10, misc_RNA
gi|2217345528|ref|XR_940494.4|

Nucleotide

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Protein