Leucine-rich glioma-inactivated , EPTP repeat

Definition

Mutations in the LGI/EPT gene can result in a special form of epilepsy, autosomal dominant lateral temporal epilepsy. The Epitempin protein (also known as Leucine-rich glioma-inactivated protein) was seen to contain a 130 amino acid repeat in its C-terminal section, although a sub-domain of 50 amino acids has now been further defined within this. The architecture and structural features of this repeat make it a likely member 7-bladed β-propeller fold PMID:12095917. This protein has now been found in a number of proteins associated with neurological disorders suggesting that it may play a role in the development of epilepsy and other related conditions PMID:12217514.

6 human proteins with this domain

Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.

Download CSV (6 proteins: gene, accession, name)

• ADGRV1
• LGI1
• LGI2
• LGI3
• LGI4
• TSPEAR