Tubulin, Beta-3

Alternative Names

  • TUBB3
  • TUBB4
  • Tubulin, Beta, Class III
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OMIM Number

602661

NCBI Gene ID

10381

Uniprot ID

Q13509

Length

14,173 bases

No. of Exons

5

No. of isoforms

2

Protein Name

Tubulin beta-3 chain

Molecular Mass

50433 Da

Amino Acid Count

450

Genomic Location

chr16:89,921,925-89,936,097

Gene Map Locus
16q24.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006086.4:c.136C>TJordanNC_000016.10:g.89932649C>TLikely Pathogenic, PathogenicLikely PathogenicCortical Dysplasia, Complex, with other Brain Malformations 1NG_027810.1:g.15641C>T; NM_006086.4:c.136C>T; NP_006077.2:p.Arg46Trp1555625363438582
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