QuickView for AP5Z1;jsessionid=E3140089D06F67708964EBBFAC0287D0 (gene)

Gene Symbol:

AP5Z1 Homo sapiens

Full name:

adaptor related protein complex 5 zeta 1 subunit

Synonyms:

KIAA0415, SPG48, zeta, AP-5 complex subunit zeta-1, adapter-related protein complex 5 zeta subunit, adaptor-related protein complex 5 zeta subunit, zeta5

Genomic Location:

Chr 7: 4781790-4797925

Description:

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 pa...

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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).

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Canis lupus familiaris

External Links:

Entrez Gene

Cytogenetic Map:

7p22.1

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