Target intelligence / Profile preview

Coiled-coil domain-containing protein 32 (CCDC32)

Target
CCDC32
Molecular classification
Other
01

Overview

Coiled-coil domain-containing protein 32 (CCDC32) is a protein encoded by the CCDC32 gene, implicated in the assembly of adaptor protein complex 2 (AP2), crucial for clathrin-mediated endocytosis in eukaryotic cells[1]. CCDC32 acts as a selective and essential assembly chaperone, specifically regulating the formation of the AP2 adaptor complex via interaction with its α, σ2, and μ2 subunits, facilitating correct assembly sequence and stability[1]. Additionally, CCDC32 has an evolutionarily conserved role in ciliogenesis, being required for the formation and/or maintenance of cilia necessary for vertebrate left-right axis development. Loss-of-function mutations in CCDC32 are linked to congenital syndromes characterized by craniofacial, cardiac, and neurodevelopmental defects[2]. While it interacts with annexin A2, the broader molecular role remains incompletely defined[2]. There are currently no approved drugs, known mechanisms of drug targeting, validated biomarkers, or explicit safety concerns associated with CCDC32.

Other names
CCDC32C15orf57MGC20481CFNDSuncharacterized protein C15orf57
02

Biological functions

Ciliogenesis (cilia formation and/or maintenance)Vesicle-mediated transport (regulation of AP2 adaptor protein assembly)Potential role in cell polarity and developmental processes
03

Disease associations

Congenital syndromes (with craniofacial, cardiac, and neurodevelopmental anomalies)Other

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