Gene Symbol | AP5Z1 |
Entrez Gene ID | 9907 |
Full Name | adaptor related protein complex 5 zeta 1 subunit |
Synonyms | KIAA0415,SPG48,zeta |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 48, autosomal recessive, 613647 (3) |