總結(jié) |
This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq]
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別名 |
Probable ubiquitin carboxyl-terminal hydrolase FAF-X, Deubiquitinating enzyme FAF-X, Fat facets in mammals, hFAM, Fat facets protein-related, X-linked, Ubiquitin thioesterase FAF-X, Ubiquitin-specific protease 9, X chromosome, Ubiquitin-specific-processing protease FAF-X, USP9X, DFFRX, FAM, USP9
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