Mouse Seipin (BSCL2) ELISA kit; GNG3LG; HMN5; MGC4694; SPG17; Bernardinelli-Seip congenital lipodystrophy 2 (seipin) ; OTTHUMP00000198007; seipin; Bernardinelli-Seip congenital lipodystrophy 2 (seipin)

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of BSCL2 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9334096 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Bernardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing BSCL2. The ELISA analytical biochemical technique of the MBS9334096 kit is based on BSCL2 antibody-BSCL2 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect BSCL2 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, BSCL2. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

43,105 Da

Berardinelli-Seip congenital lipodystrophy 2 homolog (seipin)

seipin; G protein gamma 3 linked; Bernardinelli-Seip congenital lipodystrophy 2 homolog; bernardinelli-Seip congenital lipodystrophy type 2 protein homolog

Seipin

Gng3lg; MNCb-2630??[Similar Products]

BSCL2_MOUSE

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, multi-pass; Membrane protein, integral

Cellular Component: membrane; endoplasmic reticulum; integral to membrane; integral to endoplasmic reticulum membrane

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

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