USP9X ubiquitin specific peptidase 9 X-linked

Gene ID: 8239, updated on 11-Apr-2024
Gene type: protein coding
Also known as: FAF; FAM; hFAM; DFFRX; FAF-X; MRX99; XLID99; MRXS99F

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Intellectual disability, X-linked 99 MedGen: C3806746OMIM: 300919GeneReviews: Not available	See labs
Intellectual disability, X-linked 99, syndromic, female-restricted MedGen: C4225416OMIM: 300968GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-03-28) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2018-03-28) ClinGen Genome Curation PagePubMed

Genomic context

Location:: Xp11.4

Sequence:: Chromosome: X; NC_000023.11 (41085445..41236579)

Total number of exons:: 46

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for USP9X variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
USP9X @ LOVD
Variation Viewer
Related Variants

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