TTC5
Chr 14ARtetratricopeptide repeat domain 5
Also known as: NEDCAFD, Strap
TTC5 encodes a cofactor protein that regulates multiple cellular processes including actin dynamics, autophagy, DNA damage response, and mitochondrial ATP production through interactions with various protein complexes. Mutations in TTC5 cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity, typically presenting in early childhood. The gene shows very low constraint against loss-of-function variants (pLI near 0), consistent with recessive inheritance where heterozygous carriers are unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
108 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 2 | 19 | 0 | 24 |
Likely Pathogenic | 3 | 1 | 0 | 0 | 4 |
VUS | 3 | 47 | 6 | 0 | 56 |
Likely Benign | 0 | 3 | 1 | 5 | 9 |
Benign | 0 | 1 | 1 | 0 | 2 |
Conflicting | — | 1 | |||
| Total | 9 | 54 | 27 | 5 | 96 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TTC5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools