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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
Related
BSCL2 gene mutation
General
glycoprotein
membrane protein
Properties
SIZE: MW = 45 kD
entity length = 400 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: transmembrane domain {28-48}
N-glycosylation site {N88}
N-glycosylation site {N242}
transmembrane domain {243-263}
Database Correlations
OMIM correlations
UniProt Q96G97
Pfam PF06775
References
- UniProt :accession Q96G97
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BSCL2