ASDURF

ASNSD1 upstream open reading frame

Ensembl:: ENSG00000286053
UniProt:: L0R819
OMIM:: 619740

Cilia effects upon perturbation of ASDURF

Ciliopathy associations

Medulloblastoma

Subcellular localization

cilia associated gene

Functional category

Ciliary assembly/disassembly

Function

ASNSD1 contributes to cell physiology mainly through its uORF-encoded microprotein ASDURF, which is an integral subunit of the PAQosome prefoldin-like module. Because this chaperone system participates in folding and assembly of proteins required for cilia formation, maintenance, and motility, alterations in ASNSD1/ASDURF may influence ciliary biology. Therefore, ASNSD1 and ASDURF represent emerging ciliary gene candidates, with increasing evidence connecting PAQosome dysfunction to ciliopathies(PMID: 38176414, PMID: 31738558).

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