TUBA1A

TUBA1A

A gene on chromosome 12q13.12 that encodes an alpha tubulin, which combines with a beta tubulin to form microtubules, acting as a scaffold to determine cell shape and providing a matrix for cell organelle and vesicle movement via motor proteins.

Molecular pathology
Defects of TUBA1A cause of lissencephaly type 3.
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References in periodicals archive ?
Fifteen module-related DEGs marked as bold in Table 4 were thus obtained, including CXCL2, CXCL1, BDKRB1, LPAR1, CXCL3, FYN, COL6A2, COL18A1, COL13A1, COL5A1, TUBA1A, FDFT1, SQLE, LSS, and CDK9.
Ulteriorly, fifteen module-related DEGs were obtained according to PPI network and modular analyses with a score no less than 4, namely, CXCL2, CXCL1, BDKRB1, LPAR1, CXCL3, FYN, COL6A2, COL18A1, COL13A1, COL5A1, TUBA1A, FDFT1, SQLE, LSS, and CDK9.
The PPI network consisting of induced genes (Figure 3(a)) contained a large cell cycle-related cluster with hubs and nodes related to S-phase (CCNB1 and CCNB2, CCND3, CDC16, MCM3, MCM7, and CDC25) and chromosome separation (PLK1, ANAPC5, 7, CDC20, and TUBA1A).
The other contained a missense mutation in TUBA1A, another gene associated with cortical migration disorders [62].
Yamamoto, "Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report," BMC Research Notes, vol.
These diseases are believed to have a genetic basis and have been linked to mutations and/or deletions in the double cortin (DCX), filamin-1, LISI, reelin (RENL), tubulin (TUBA1A), and aristaless-related homeobox (ARX) genes, (DOBYNS et al., 1993; HONG et al.
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
The tubulin alpha-1A (TUBA1A) has only been linked to non-small cell lung carcinomas [33].
(b) POTEE protein in complex with TUBA1A is the heavier protein complex that coimmunoprecipitates with both RPeL27 and RPeL43, respectively, while the lighter complex was ACTB and ACTBL2 protein.
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.
Lissencephaly is a malformation that occurs relatively often in humans, and mutations in the LIS1, doublecortin (DCX), filamin-1, tubulin A1A (TUBA1A), and reelin (RELN) genes have been linked to the occurrence of this condition.
The combination of microencephaly, cerebellar hypoplasia and hypoplasia of the corpus callosum in humans has been linked to autosomal recessive mutations in genes such as TUBA1A and RELN (ROSS et al., 2001).