InterPro domain: IPR027485

General Information

  • Identifier IPR027485
  • Description AMMECR1, N-terminal
  • Number of genes 135
  • Gene duplication stats Loading...

Abstract

This entry represents an N-terminal subdomain of the AMMECR1 domain ( IPR002733 ). It consists of a 2-layer sandwich structure. Defects in AMME syndrome candidate gene 1 protein (AMMECR1) are involved in Alport syndrome (A) with mental retardation (M) midface hypoplasia (M) and elliptocytosis (E).

Species distribution

Gene table