| ncRNA Symbol: | AP4B1 |
| Full Name: | adaptor related protein complex 4 subunit beta 1 |
| Category: | mRNA |
| Synonyms: | BETA-4|CPSQ5|SPG47 |
| Chromosome: | chr1 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 113894748 | End Site(bp): | 113905201 |
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| Gene Summary: | 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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