| ncRNA Symbol: | KPTN | | Full Name: | kaptin, actin binding protein | | Category: | mRNA | | Synonyms: | 2E4|MRT41 | | Chromosome: | chr19 | | Strand: | - | | Coordinate: | | Start Site(bp): | 47475144 | End Site(bp): | 47484268 |
| | Gene Summary: | This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017] | | External Links: | |
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