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 and spastic paraplegia 48, autosomal recessive. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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.