Gene: TUBB

Alternate names for this Gene: CDCBM6|CSCSC1|M40|OK/SW-cl.56|TUBB1|TUBB5

Gene Summary: This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: tubulin beta class I

Type of Gene: protein-coding

rs587777355 in TUBB gene and CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 PMID 23246003 2012 Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

rs587777357 in TUBB gene and Dysmorphic features PMID 24833723 2014 TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.

PMID 26637975 2015 Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

PMID 23246003 2012 Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

rs587777357 in TUBB gene and Multiple congenital anomalies PMID 23246003 2012 Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

PMID 24833723 2014 TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.

PMID 26637975 2015 Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

rs587777357 in TUBB gene and Muscle hypotonia PMID 23246003 2012 Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

PMID 24833723 2014 TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.

PMID 26637975 2015 Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

rs864321676 in TUBB gene and SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 PMID 26637975 2015 Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.