Rabbit anti-Human BSCL2 Polyclonal Antibody

Uniprot Id

Q96G97

Target Species

Human

Target Name

BSCL2

Target Full Name

Seipin

Target Function

Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis. In association with LDAF1, defines the sites of LD formation in the ER. Also required for growth and maturation of small nascent LDs into larger mature LDs. Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs. Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts. Binds anionic phospholipids including phosphatidic acid. Plays an important role in the differentiation and development of adipocytes

Target Involvement

Congenital generalized lipodystrophy 2 (CGL2); Spastic paraplegia 17, autosomal dominant (SPG17); Neuronopathy, distal hereditary motor, 5A (HMN5A); Encephalopathy, progressive, with or without lipodystrophy (PELD)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Lipid droplet.

Target Protein Families

Seipin family

Target Tissue Specificity

Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue.

Target Synonyms

BSCL2; Seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein

Target Background

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).