protein fantom (RPGR-interacting protein 1-like protein, RPGRIP1-like protein, RPGRIP1L, FTM, KIAA1005)

Function

• role in programmed cell death
• role in craniofacial development
• role in patterning of the limbs
• role in formation of the left-right axis

Structure

• belongs to the RPGRIP1 family
• contains 2 C2 domains

Alternative splicing

named isoforms=2

Expression

• ubiquitously expressed
• relatively high level of expression in hypothalamus

Pathology

• mutated in cerebello-oculo-renal syndrome & Meckel syndrome

More general terms

• other protein

Database

• UniProt: http://www.uniprot.org/uniprot/Q68CZ1.html