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 Subunit Zeta 1) is a Protein Coding gene. Diseases associated with AP5Z1 include Spastic Paraplegia 48, Autosomal Recessive and Paraplegia. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is LPIN2.
UniProtKB/Swiss-Prot Summary 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.