rs2100994599
This variant is located in the AP4B1 gene.
▶ClinVar annotation
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]
View all AP4B1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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