Target intelligence / Profile preview

Tetratricopeptide repeat protein 7B (TTC7B)

Target
TTC7B
Molecular classification
Scaffolding protein, Tetratricopeptide repeat (TPR) family
01

Overview

Tetratricopeptide repeat protein 7B (TTC7B) is a scaffolding protein characterized by multiple tetratricopeptide repeat motifs that facilitate the assembly of multi-protein complexes. Its primary biological role is as a regulatory subunit of the plasma membrane phosphatidylinositol 4-kinase (PI4K) complex, which also includes the catalytic subunit PI4KA and the adapter protein FAM126. This complex is essential for the synthesis of phosphatidylinositol 4-phosphate (PI4P), a critical signaling lipid that regulates vesicle trafficking, lipid transport, and the recruitment of signaling proteins to the plasma membrane (UniProt Q86TV1; PubMed: 24790097). While TTC7B is a paralog of TTC7A, which is well-known for its role in multiple intestinal atresia and combined immunodeficiency (MIA-CID), TTC7B has been more closely linked to neurodevelopmental processes and the maintenance of membrane integrity in various tissues. In the context of drug development, TTC7B is considered a potential target for modulating the PI4K pathway, which is frequently dysregulated in cancers and exploited by certain viruses for replication. Current therapeutic strategies focus on disrupting the interaction between TTC7B and PI4KA to selectively inhibit lipid signaling in disease states, though no drugs targeting this specific protein have reached clinical use yet (PubMed: 27503894; PubMed: 25103138).

Other names
TTC7BTetratricopeptide repeat domain 7BFLJ38380
02

Mechanism of action

Modulation of the PI4KA-TTC7-FAM126 complex to regulate phosphatidylinositol 4-phosphate (PI4P) production

03

Biological functions

Phosphatidylinositol metabolismProtein-protein interactionRegulation of Phosphatidylinositol 4-kinase activityPlasma membrane organizationSignal transduction
04

Disease associations

Neurodevelopmental disorderCancerImmunodeficiency (potential)Gastrointestinal disease (potential)
05

Safety considerations

Essential role in fundamental lipid signalingPotential for multi-organ toxicity due to ubiquitous expressionRisk of mimicking TTC7A-deficiency phenotypes (immunodeficiency and intestinal issues)
06

Biomarkers

TTC7B expression levelsPI4P membrane levels

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