BSCL2
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
Synonyms:
GNG3LG, HMN5, SPG17
Species:
Human BSCL2 (26580), Mouse Bscl2 (14705), Rat Bscl2 (361722), Horse BSCL2 (100063764), domestic cat BSCL2 (101091148), dog BSCL2 (476054), domestic guinea pig Bscl2 (100734242), Zebrafish bscl2 (567403), Domestic Rabbit BSCL2 (100339598), sheep BSCL2 (101113634) ...More
UniProtKB ID:
Gene ID:
- Human(26580) Summary: This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
- Mouse(14705) Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
- Rat(361722) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- Horse(100063764) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- domestic cat(101091148) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- dog(476054) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- domestic guinea pig(100734242) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- Zebrafish(567403) Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
- Domestic Rabbit(100339598) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- sheep(101113634) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- cow(513558) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- naked mole-rat(101726428) Berardinelli-Seip congenital lipodystrophy 2 (seipin)
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