Domain

FerIin domain (IPR012968)

Short name: FerIin-domain

Domain relationships

None.

Description

The ferlin gene family are characterised by multiple tandem C2 domains and a C-terminal transmembrane domain. They are found in a wide range of species and their function remains unknown, however, mutations in its two most well-characterised members, dysferlin and otoferlin, have been implicated in human disease [PMID: 20667140].

This domain is present in proteins of the Ferlin family, which includes Otoferlin, Myoferlin and Dysferlin. It is often located between two C2 domains [PMID: 15112237].

Contributing signatures

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