Gene Symbol | USP9X |
Entrez Gene ID | 8239 |
Full Name | ubiquitin specific peptidase 9, X-linked |
Synonyms | DFFRX,FAF,FAM,MRX99,MRXS99F |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked 99, 300919 (3); Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3) |