non-imprinted in Prader-Willi/Angelman syndrome region protein 1 (NIPA1)

Compartment

membrane

Alternative splicing

named isoforms=2

Expression

• widely expressed
• highest levels in neuronal tissues

Pathology

• defects in NIPA1 are the cause of spastic paraplegia 6

Laboratory

• NIPA1 gene mutation

More general terms

• transmembrane 9c protein

Additional terms

• Angelman syndrome (happy puppet syndrome)
• Prader-Willi syndrome
• spastic paraplegia type-6

Database

• OMIM: https://mirror.omim.org/entry/600363
• OMIM: https://mirror.omim.org/entry/608145
• UniProt: http://www.uniprot.org/uniprot/Q7RTP0.html