AP4B1 (NP_006585, 640 a.a. ~ 739 a.a) partial recombinant protein with GST tag. The sequence is VAHQQVLPWRGEFHPDTLQMALQVVNIQTIAMSRAGSRPWKAYLSAQDDTGCLFLTELLL EPGNSEMQISVKQNEARTETLNSFISVLETVIGTIEEIKS
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.
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