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ARPC4-TTLL3 readthrough transcript (fusion protein) (ARPC4-TTLL3)

Target
ARPC4-TTLL3
Molecular classification
Other (fusion protein, actin-binding component of Arp2/3 complex; not a receptor, enzyme or typical drug target)
01

Overview

The ARPC4-TTLL3 readthrough represents a fusion protein produced from a read-through transcript joining ARPC4 and TTLL3 on chromosome 3. The protein combines sequence elements from both ARPC4 (a member of the Arp2/3 complex that mediates actin polymerization, essential for cytoskeletal organization and cell motility) and TTLL3 (an enzyme family involved in tubulin modification). The functional and disease association of the fusion protein is unclear, but it is reported in human transcriptomics datasets and linked to developmental disorders and several syndromic diseases. Importantly, ARPC4-TTLL3 is not a conventional therapeutic target like a receptor, enzyme, or transporter, but rather a rare fusion event identified mainly in genomics/proteomics experiments. In summary, ARPC4-TTLL3 is a gene fusion product rather than a standalone molecular target. Its presence may be more relevant as a genomic curiosity or structural variant than as a defined therapeutic or diagnostic target.

Other names
ARC20ARPC4p20-ARCARPC4-TTLL3 fusion proteinARPC4-TTLL3 readthrough transcriptActin-related protein 2/3 complex subunit 4Arp2/3 complex 20 kDa subunitARPC4-TTLL3
02

Biological functions

Actin polymerization and nucleationCytoskeleton organizationArp2/3 complex-mediated cell motilityPossibly gene transcription and DNA repair (by analogy to ARPC4)
03

Disease associations

Developmental delayLanguage impairmentOcular abnormalitiesDyggve-Melchior-Clausen Disease

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