AC092143.1

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]

Description

Novel protein (MC1R-TUBB3 readthrough)

Tissue specificity

Tissue enriched (testis)

Subcell location

Microtubules, Cytokinetic bridge, Mitotic spindle

Predicted location

Membrane

Protein family

Predicted membrane proteins

Chromosome

16 (89919165 - 89936092)

Ensembl ID

ENSG00000198211  (ver. 103.38)

Orthologs

-

UniProt

 

neXtProt

 

Human splice variants

Protein structure