AF4/FMR2 family member 2 (fragile X mental retardation 2 protein, protein FMR-2, FMR2P, protein Ox19, fragile X E mental retardation syndrome protein, AFF2, FMR2, OX19)

Alternative splicing

named isoforms=4

Expression

• expressed in brain (most abundant in hippocampus & amygdala), placenta, lung

Pathology

• defects in AFF2 associated with X-linked mental retardation FRAXE
  • correlated with FRAXE CCG(N) expansion

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/309548
• UniProt: http://www.uniprot.org/uniprot/P51816.html