rs201481802

This variant is located in the AP5Z1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters2 publications

Hereditary spastic paraplegia 48; Hereditary spastic paraplegia

About AP5Z1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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