Rabbit anti-Human BSCL2 Polyclonal Antibody | anti-BSCL2 antibody

BSCL2, NT (BSCL2, Seipin, Bernardinelli-Seip congenital lipodystrophy type 2 protein) (APC)

Cat. Num. AAA6279045

• Gene Names: BSCL2; HMN5; PELD; SPG17; GNG3LG
• Reactivity: Human
• Applications: Immunohistochemistry, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: BSCL2; Polyclonal Antibody; NT (BSCL2; Seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein) (APC); Bernardinelli-Seip congenital lipodystrophy type 2 protein; anti-BSCL2 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Allophycocyanin (APC).

• Applicable Applications for anti-BSCL2 antibody: Immunohistochemistry (IHC), FLISA, Western Blot (WB)
• Application Notes: IHC: 1:50-100; FLISA: 1:1,000; WB: 1:100-500; Applications are based on unconjugated antibody.
• Immunogen: BSCL2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 85-115 amino acids from the N-terminal region of human BSCL2.
• Conjugate: APC
• Note: Preservative Free
• Special Handling: Light sensitive
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: APC conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(BSCL2 Antibody (N-term) western blot analysis in NCI-H460 cell line lysates (35ug/lane).This demonstrates the BSCL2 antibody detected the BSCL2 protein (arrow).)

Immunohistochemistry (IHC)

(BSCL2 Antibody (N-term) immunohistochemistry analysis in formalin fixed and paraffin embedded human testis carcinoma followed by peroxidase conjugation of the secondary antibody and DAB staining. This data demonstrates the use of the BSCL2 Antibody (N-term) for immunohistochemistry. Clinical relevance has not been evaluated.)

Related Product Information for anti-BSCL2 antibody

This gene encodes protein seipin, which is located in 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.

Product Categories/Family for anti-BSCL2 antibody

Antibodies; Disease Markers

References

Rakocevic-Stojanovic, V., et al. J. Neurol. Sci. 296 (1-2), 107-109 (2010): Luigetti, M., et al. Muscle Nerve 42(3):448-451(2010). Nishiyama, A., et al. Pediatr Int 51(6):775-779(2009). Wu, Y.R., et al. J. Neurol. Neurosurg. Psychiatr. 80(10):1180-1181(2009). Chen, W., et al. Endocrinology 150(10):4552-4561(2009).

NCBI and Uniprot Product Information

• NCBI GI #: 171906569
• NCBI GeneID: 26580
• NCBI Accession #: NP_001116427.1; NP_001124174.1; NP_116056.3
• NCBI GenBank Nucleotide #: NM_001122955.3
• UniProt Accession #: Q96G97; Q567S1; Q96SV1; Q9BSQ0; G3XAE4
• Molecular Weight: 44,392 Da
• NCBI Official Full Name: seipin isoform 1
• NCBI Official Synonym Full Names: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
• NCBI Official Symbol: BSCL2
• NCBI Official Synonym Symbols: HMN5; PELD; SPG17; GNG3LG
• NCBI Protein Information: seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein
• UniProt Protein Name: Seipin
• UniProt Gene Name: BSCL2
• UniProt Entry Name: BSCL2_HUMAN

Uniprot Description

BSCL2: Is a regulator of lipid catabolism essential for adipocyte differentiation. Necessary for correct lipid storage and lipid droplets maintenance. Defects in BSCL2 are the cause of congenital generalized lipodystrophy type 2 (CGL2). Congenital generalized lipodystrophy is an autosomal recessive disorder characterized by a near absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Defects in BSCL2 are the cause of spastic paraplegia type 17 (SPG17); also known as Silver spastic paraplegia syndrome. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs, and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5. Defects in BSCL2 are a cause of distal hereditary motor neuronopathy type 5A (HMN5A); also known as distal hereditary motor neuropathy type V (DSMAV). A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Belongs to the seipin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 11q13

Cellular Component: integral to endoplasmic reticulum membrane

Biological Process: fat cell differentiation; sequestering of lipid; negative regulation of lipid catabolic process; lipid catabolic process

Disease: Neuronopathy, Distal Hereditary Motor, Type Va; Lipodystrophy, Congenital Generalized, Type 2; Spastic Paraplegia 17, Autosomal Dominant; Encephalopathy, Progressive, With Or Without Lipodystrophy