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AP5Z1 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).
Gene Name: | adaptor-related protein complex 5, zeta 1 subunit |
Synonyms: | AP5Z1, AP-5 complex subunit zeta-1, SPG48, Zeta, Zeta5, KIAA0415 |
Target Sequences: | NM_014855 NP_055670.1 O43299 |
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