tetratricopeptide repeat domain 8

Summary
Gene Symbol
  • TTC8
Organism
Homo sapiens (human)
NCBI Gene
123016
PubChem
123016
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Bardet-Biedl syndrome
  • Cell membrane
  • Cilium
  • Cilium biogenesis/degradation
  • Cytoskeleton
  • Disease variant
  • Intellectual disability
  • Obesity
  • Protein transport
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Retinitis pigmentosa
  • TPR repeat
Proteins
Displaying all 6 entries
UniProt Protein Name
A0A0C4DGY3
B3KSL8
Q86U25
Q8TAM2
  • Bardet-Biedl syndrome 8 protein
A0A0C4DGH8
A0A0C4DGX9
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
tetratricopeptide
Functional Category
  • L: Replication, recombination and repair
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0110130 Bardet-Biedl syndrome 8
DOID:0110398 retinitis pigmentosa 51
DOID:1935 Bardet-Biedl syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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