rs751068724

This variant is located in the AP4M1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
3 submitters5 publications

Hereditary spastic paraplegia 50; not provided

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About AP4M1

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

View all AP4M1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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