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Coiled-coil domain-containing protein 144A (CCDC144A)

Target: CCDC144A
Molecular classification: Other (contains *coiled-coil domain*, and *domain of unknown function (DUF3496)*, not assigned to classic families like kinases or receptors)

Overview

Coiled-coil domain-containing protein 144A is a soluble, cytoplasmic protein predicted to localize near the nucleus in human cells[2]. It contains a coiled-coil structure and a conserved domain of unknown function (DUF3496), as well as a leucine zipper motif. The protein consists mostly of alpha helices and has low expression across tissues[2][5]. Biological studies highlight a role in *calcium oxalate binding*, with possible involvement in kidney stone formation and prevention via inhibition of crystal adhesion and related cell injury[1][4]. Genetic association studies link CCDC144A to nephrolithiasis and possibly autism spectrum disorder. Though not a classic therapeutic target, its anti-lithiatic activity suggests potential relevance for kidney stone research, but no drugs or mechanisms have been validated. Despite shared nomenclature with other CCDC144 family proteins and a pseudogene (CCDC144NL), CCDC144A is a distinct, protein-coding gene, not a pseudogene[2][7].

Other names: CCDC144AKIAA0565FLJ43983coiled-coil domain containing 144A

Biological functions

May be involved in *calcium oxalate binding*Suggested to mediate *crystal binding activity* (especially in the context of kidney stone formation)May play a protective role in the kidney by inhibiting crystal adhesion and preventing associated *inflammatory response* and *cell injury*

Disease associations

Nephrolithiasis (kidney stones)Autism spectrum disorder (association noted in database, but not mechanistically explained)Smith-Magenis Syndrome (chromosomal region association)

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