Gene Symbol | KPTN |
Entrez Gene ID | 11133 |
Full Name | kaptin, actin binding protein |
Synonyms | 2E4,MRT41 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 41, 615637 (3) |