AP5Z1, Official Symbol AP5Z1provided by HGNC Official Full Name adaptor related protein complex 5 subunit zeta 1provided by HGNC Primary source HGNC:HGNC:22197 See related Ensembl:ENSG00000242802 MIM:613653; AllianceGenome:HGNC:22197 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as zeta; SPG48; KIAA0415 Summary 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] Expression Ubiquitous expression in spleen (RPKM 5.9), skin (RPKM 4.3) and 25 other tissues See more Orthologs mouse all