Family

Pyrin (IPR028841)

Short name: Pyrin

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

Pyrin (also known as MEFV) associates with microtubules and co-localises with actin [PMID: 11468188]. It is regulated in response to inflammatory mediators [PMID: 10807793]. In humans, it is expressed in peripheral blood leukocytes [PMID: 10807793].

Mutations in the pyrin gene cause familial Mediterranean fever, autosomal recessive (ARFMF) [PMID: 9288758] and familial Mediterranean fever, autosomal dominant (ADFMF) [PMID: 12384939]. Familial Mediterranean fever is characterised by recurrent episodes of fever, which are independent of any bacterial or viral infections [PMID: 19729025].

Contributing signatures

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