seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein, BSCL2)

Structure

• belongs to the seipin family

Compartment

endoplasmic reticulum membrane

Alternative splicing

named isoforms=3

Expression

highest expression in brain & testis

Pathology

• defects in BSCL2 are the cause of Berardinelli-Seip congenital lipodystrophy type 2

defects in BSCL2 are a cause of Silver spastic paraplegia syndrome

defects in BSCL2 are a cause of distal hereditary motor neuropathy type 5

More general terms

• membrane protein
• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/269700
• OMIM: https://mirror.omim.org/entry/600794
• OMIM: https://mirror.omim.org/entry/606158
• UniProt: http://www.uniprot.org/uniprot/Q96G97.html