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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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Additional Contact Details
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AP4B1
Adaptor-related Protein Complex 4, Beta 1 Subunit
AP4B1 is 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.
| Gene Name: | Adaptor-related Protein Complex 4, Beta 1 Subunit |
| Synonyms: | AP4B1, Beta subunit of AP-4, CPSQ5, Spastic paraplegia 47, AP-4 complex subunit beta-1, Beta 4 subunit of AP-4, BETA-4, Beta4-adaptin, SPG47 |
| Target Sequences: | NM_006594 NP_006585.2 Q9Y6B7 |
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