TUBB3 tubulin beta 3 class III

Gene ID: 10381, updated on 7-Apr-2024
Gene type: protein coding
Also known as: CDCBM; FEOM3; TUBB4; CDCBM1; CFEOM3; beta-4; CFEOM3A

Summary

This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Complex cortical dysplasia with other brain malformations 1 MedGen: C3808397OMIM: 614039GeneReviews: Tubulinopathies Overview	See labs
Congenital Fibrosis of the Extraocular Muscles 1B MedGen: CN120300GeneReviews: Congenital Fibrosis of the Extraocular Muscles Overview	not available
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement MedGen: C2748801OMIM: 600638GeneReviews: Congenital Fibrosis of the Extraocular Muscles Overview	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2017-08-30) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2017-08-30) ClinGen Genome Curation Page

Genomic context

Location:: 16q24.3

Sequence:: Chromosome: 16; NC_000016.10 (89921925..89936097)

Total number of exons:: 5

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 TUBB3 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
Variation Viewer
Related Variants

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