FerIin domain

Definition

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.

5 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 (5 proteins: gene, accession, name)

• DYSF
• FER1L5
• FER1L6
• MYOF
• OTOF