Early Detection Research Network

TUBA1A

Aliases:
This biomarker is also known as:
  • tubulin, alpha 1a,
  • tubulin, alpha, brain-specific,
  • LIS3,
  • Tubulin alpha-3 chain,
  • TUBA1A,
  • hum-a-tub2,
  • FLJ25113,
  • TUBA3,
  • Alpha-tubulin 3,
  • tubulin B-alpha-1,
  • tubulin alpha-1A chain,
  • B-ALPHA-1,
  • Tubulin B-alpha-1,
  • hum-a-tub1,
  • tubulin alpha-3 chain,

Description…

From NCBI Gene: Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Gene
HGNC Name: TUBA1A

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

This biomarker is currently being annotated or is under review. You must be logged in or do not have permission to view any additional information. Contact the Informatics Center if you should have access to this biomarker.

Version 5.0.2