OTUD6B OTU deubiquitinase 6B

Gene ID: 51633, updated on 7-Apr-2024
Gene type: protein coding
Also known as: DUBA5; CGI-77; DUBA-5; IDDFSDA

Summary

This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MedGen: C4479520OMIM: 617452GeneReviews: Not available	See labs

Genomic context

Location:: 8q21.3

Sequence:: Chromosome: 8; NC_000008.11 (91070344..91087093)

Total number of exons:: 8

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 OTUD6B 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
Variation Viewer
Related Variants

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