Entity Details

Primary name TTLL5
Entity type gene
Source Source Link

Details

PrimaryID23093
RefseqGeneNG_016974
SymbolTTLL5
Nametubulin tyrosine ligase like 5
Chromosome14
Location14q24.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTTLL5_HUMAN

GO terms

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GOName
GO:0000226 microtubule cytoskeleton organization
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0015631 tubulin binding
GO:0018095 protein polyglutamylation
GO:0060041 retina development in camera-type eye
GO:0070740 tubulin-glutamic acid ligase activity

Diseases

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Disease IDSourceNameDescription
615860 OMIMCone-rod dystrophy 19 (CORD19)A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease is caused by variants affecting the gene represented in this entry.