TTC5

Chr 14

tetratricopeptide repeat domain 5

Also known as: NEDCAFD, Strap

NCBI Gene: 91875 ENSG00000136319 UniProt: Q8N0Z6

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.

ResearchSummary from RefSeq, UniProt

Enables ribosome binding activity. Involved in positive regulation of mRNA catabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.79

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429