|  Help  |  About  |  Contact Us

Protein Domain : FerIin domain

Primary Identifier  IPR012968 Type  Domain
Short Name  FerIin_dom
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 [].This domain is present in proteins of the Ferlin family, which includes Otoferlin, Myoferlin and Dysferlin. It is often located between two C2 domains [].

0 Child Features

0 Parent Features

46 Protein Domain Regions