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tetratricopeptide repeat domain 8
Summary
- Gene Symbol
-
- TTC8
- Organism
- Homo sapiens (human)
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
| UniProt | Protein Name |
|---|---|
| A0A0C4DGX9 |
|
| Q86U25 |
|
| A0A0C4DGY3 |
|
| Q8TAM2 |
|
| B3KSL8 |
|
| A0A0C4DGH8 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| establishment of planar polarity | ||
| axon guidance | ||
| sensory perception of smell | ||
| protein transport | ||
| olfactory bulb development |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| fibrillar center | ||
| mitochondrion | ||
| centrosome | ||
| cytosol | ||
| cilium |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Tetratricopeptide repeat
- Functional Category
-
- K: Transcription
- L: Replication, recombination and repair
- T: Signal transduction mechanisms
| InterPro |
|---|
| Tetratricopeptide repeat protein 8 |
| Tetratricopeptide repeat |
| Tetratricopeptide-like helical domain superfamily |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110130 | Bardet-Biedl syndrome 8 | |
| DOID:0110398 | retinitis pigmentosa 51 | |
| DOID:1935 | Bardet-Biedl syndrome |
