AGBL2

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in the AGBL2 gene was identified in a UDN participant with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well-treated and controlled (read full description).

Date of Report

Feb 23, 2023

Full Name

AGBL carboxypeptidase 2

Location

Chromosome 11 (11p11.2)

Function

AGBL2 is responsible for mediating deglutamylation of tubulin and non-tubulin target proteins and catalyzing the removal of polyglutamate side chains on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin protein. Additionally, it cleaves tubulin long-side-chains and catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins (Tort et al., 2014).

Database Links

GeneCards: AGBL2

NCBI Gene: 79841

OMIM: 617345

UniProtKB/Swiss-Prot: Q5U5Z8

Clinical Significance

A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene AGBL2

Inheritance Pattern Autosomal recessive

Position (hg19) chr11:g.47707486G>A

Transcript NM_024783.4

DNA Change c.1747C>T

Protein Change p.Arg583Ter

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