Metabolism Antibodies 1

Anti-BSCL2 Antibody (CAB14583)

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SKU:
CAB14583
Product Type:
Antibody
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Metabolism

Description

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Antibody Name:Anti-BSCL2 Antibody
Antibody SKU:CAB14583
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Mouse, Rat
Host Species:Rabbit
Immunogen:A synthetic peptide corresponding to a sequence within amino acids 50-150 of human BSCL2 (NP_116056.3).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Mouse, Rat
Positive Samples:Mouse brain, Mouse lung, Mouse testis, Rat brain, Rat testis
Immunogen:A synthetic peptide corresponding to a sequence within amino acids 50-150 of human BSCL2 (NP_116056.3).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:GSFY YSYM PTVS HLSP VHFY YRTD CDSS TTSL CSFP VANV SLTK GGRD RVLM YGQP YRVT LELE LPES PVNQ DLGM FLVT ISCY TRGG RIIS TSSR SVML H
Gene ID:26580
Uniprot:Q96G97
Cellular Location:Endoplasmic reticulum membrane, Multi-pass membrane protein
Calculated MW:32kDa/44kDa/51kDa
Observed MW:46kDa
Synonyms:BSCL2, GNG3LG, HMN5, PELD, SPG17, seipin
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).
UniProt Protein Function: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.
UniProt Protein Details:

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

NCBI 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]
UniProt Code:Q96G97
NCBI GenInfo Identifier:40068505
NCBI Gene ID:26580
NCBI Accession:NP_116056
UniProt Related Accession:Q96G97
Molecular Weight:
NCBI Full Name:seipin isoform 2
NCBI Synonym Full Names:BSCL2 lipid droplet biogenesis associated, seipin
NCBI Official Symbol:BSCL2  
NCBI Official Synonym Symbols:HMN5; PELD; SPG17; GNG3LG  
NCBI Protein Information:seipin
UniProt Protein Name:Seipin
UniProt Synonym Protein Names:Bernardinelli-Seip congenital lipodystrophy type 2 protein
UniProt Gene Name:BSCL2  
UniProt Entry Name:BSCL2_HUMAN
Anti-BSCL2 Antibody (CAB14583)Western blot analysis of extracts of various cell lines, using BSCL2 antibody (CAB14583) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 5s.
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