rs763842373

This variant is located in the AP4B1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters2 publications

Hereditary spastic paraplegia 47; Inborn genetic diseases

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About AP4B1

This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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