AP5Z1 adaptor related protein complex 5 subunit zeta 1

Gene ID: 9907, updated on 17-Jun-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hereditary spastic paraplegia 48 MedGen: C3150901OMIM: 613647GeneReviews: Not available	See labs

Genomic context

Location:: 7p22.1

Sequence:: Chromosome: 7; NC_000007.14 (4775623..4794397)

Total number of exons:: 18

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for AP5Z1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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