Aliases for AP5Z1 Gene
External Ids for AP5Z1 Gene
Previous HGNC Symbols for AP5Z1 Gene
Previous GeneCards Identifiers for AP5Z1 Gene
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]
GeneCards Summary for AP5Z1 Gene
AP5Z1 (Adaptor Related Protein Complex 5 Zeta 1 Subunit) is a Protein Coding gene. Diseases associated with AP5Z1 include Spastic Paraplegia 48, Autosomal Recessive and Spastic Paraplegia 35, Autosomal Recessive. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding.
UniProtKB/Swiss-Prot for AP5Z1 Gene
As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:20613862 it is a putative helicase required for efficient homologous recombination DNA double-strand break repair.