Identity
HGNC
LOCATION
14q24.3
LOCUSID
ALIAS
CORD19,KIAA0998,STAMP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23093
MIM: 612268
HGNC: 19963
Ensembl: ENSG00000119685
Variants:
dbSNP: 23093
ClinVar: 23093
TCGA: ENSG00000119685
COSMIC: TTLL5
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38264610 | 2023 | Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype. | 0 |
| 38264610 | 2023 | Novel pathogenic variants in Tubulin Tyrosine Like 5 (TTLL5) associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype. | 0 |
| 35365235 | 2022 | Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series. | 2 |
| 36445968 | 2022 | Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. | 7 |
| 35365235 | 2022 | Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series. | 2 |
| 36445968 | 2022 | Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants. | 7 |
| 34203883 | 2021 | Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. | 7 |
| 34203883 | 2021 | Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy. | 7 |
| 30517872 | 2018 | CSAP Acts as a Regulator of TTLL-Mediated Microtubule Glutamylation. | 8 |
| 30517872 | 2018 | CSAP Acts as a Regulator of TTLL-Mediated Microtubule Glutamylation. | 8 |
| 28356705 | 2017 | Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family. | 6 |
| 28356705 | 2017 | Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family. | 6 |
| 28173158 | 2016 | Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. | 18 |
| 28173158 | 2016 | Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. | 18 |
| 24791901 | 2014 | Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. | 45 |
Citation
Dessen P
TTLL5 (tubulin tyrosine ligase like 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/75315/ttll5-(tubulin-tyrosine-ligase-like-5)
