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C17orf53 is an uncharacterized gene located on chromosome 17 in humans. The transcribed C17orf53 protein is ubiquitously expressed and localized primarily to the nucleus with some presence in the cytoplasm, and it is believed to be a transport protein. It may be involved in relaying sensory information as it shows particularly high expression in the hypothalamus (en.wikipedia.org/wiki/C17orf53). C17orf53 is known to interact with HYM1, LRRK2, MAPRE3, PIK3R3, PRMT1, TRIM33 and XPO1, Mutations and SNP variants in C17orf53 have been associated with bone density and propensity for fracture (PMID 30370607, 19079262).
Gene Name: | Chromosome 17 Open Reading Frame 53 |
Synonyms: | C17orf53 |
Target Sequences: | NM_024032 NP_076937.2 Q8N3J3 |
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