AP5Z1

Chr 7AR

adaptor related protein complex 5 subunit zeta 1

Also known as: KIAA0415, SPG48, zeta

NCBI Gene: 9907 ENSG00000242802 OMIM: 613653

The protein functions as a putative helicase required for homologous recombination DNA double-strand break repair and may also be involved in endosomal transport as part of the AP-5 adaptor protein complex. Mutations cause spastic paraplegia 48, an autosomal recessive disorder affecting the motor system. The gene shows tolerance to loss-of-function variants (LOEUF 1.47), suggesting that complete loss of function may be required for disease manifestation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.471 OMIM phenotype

Clinical Summary— AP5Z1

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Gene-Disease Validity (ClinGen)

hereditary spastic paraplegia · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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