Repeat

Leucine-rich glioma-inactivated , EPTP repeat (IPR005492)

Short name: EPTP

Description

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 beta-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].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
Pfam