tubulinopathy

Summary
Definition
A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes.
Super Class
autosomal genetic disease congenital nervous system abnormality
External Links
Disease Ontology
DOID:0112227
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
7280 TUBB2A tubulin beta 2A class IIa
10381 TUBB3 tubulin beta 3 class III
10382 TUBB4A tubulin beta 4A class IVa
10383 TUBB4B tubulin beta 4B class IVb
81027 TUBB1 tubulin beta 1 class VI
84617 TUBB6 tubulin beta 6 class V
203068 TUBB tubulin beta class I
347733 TUBB2B tubulin beta 2B class IIb
Displaying all 7 entries
Gene ID Gene Symbol Description Source
22151 Tubb2a tubulin, beta 2A class IIA
22152 Tubb3 tubulin, beta 3 class III
22153 Tubb4a tubulin, beta 4A class IVA
22154 Tubb5 tubulin, beta 5 class I
67951 Tubb6 tubulin, beta 6 class V
73710 Tubb2b tubulin, beta 2B class IIB
227613 Tubb4b tubulin, beta 4B class IVB

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024