Family

RAVE subunit 2/Rogdi (IPR028241)

Short name: RAVE2/Rogdi

Family relationships

None.

Description

This is a family of conserved proteins which have been suggested as containing leucine-zipper domains. A leucine zipper domain is a region of 30 amino acids with leucines repeating every seven or eight residues; these proteins do have many such leucines. The representative protein in Drosophila comes from the gene ROGDI. This group includes Rav2 (RAVE complex subunit 2) from yeast. The RAVE complex is required for stable assembly of the vacuolar ATPase complex V-ATPase [PMID: 11283612, PMID: 11844802].

Mutations in human ROGDI cause Kohlschütter-Tönz syndrome (KTS), which is an autosomal-recessive disease characterised by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta [PMID: 22424600, PMID: 23086778].

Contributing signatures

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