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PJA1 / PRAJA1 is an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked mental retardation disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants.
Gene Name: | Praja Ring Finger Ubiquitin Ligase 1 |
Synonyms: | PJA1, Praja ring finger 1, PRAJA1, Praja 1, RNF70, RING finger protein 70 |
Target Sequences: | NM_022368 NP_071763.2 |
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