BSCL2 cdna clone
BSCL2 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
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 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, multi-pass; Membrane protein, integral
Chromosomal Location of Human Ortholog: 11q13
Cellular Component: integral to endoplasmic reticulum membrane
Molecular Function: protein binding
Biological Process: fat cell differentiation; negative regulation of lipid catabolic process; sequestering of lipid
Disease: Encephalopathy, Progressive, With Or Without Lipodystrophy; Lipodystrophy, Congenital Generalized, Type 2; Neuronopathy, Distal Hereditary Motor, Type Va; Spastic Paraplegia 17, Autosomal Dominant
Research Articles on BSCL2
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Product Notes
The BSCL2 bscl2 (Catalog #AAA1275100) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggtcaacg accctccagt acctgcctta ctgtgggccc aggaggtggg ccaagtcttg gcaggccgtg cccgcaggct gctgctgcag tttggggtgc tcttctgcac catcctcctt ttgctctggg tgtctgtctt cctctatggc tccttctact attcctatat gccgacagtc agccacctca gccctgtgca tttctactac aggaccgact gtgattcctc caccacctca ctctgctcct tccctgttgc caatgtctcg ctgactaagg gtggacgtga tcgggtgctg atgtatggac agccgtatcg tgttacctta gagcttgagc tgccagagtc ccctgtgaat caagatttgg gcatgttctt ggtcaccatt tcctgctaca ccagaggtgg ccgaatcatc tccacttctt cgcgttcggt gatgctgcat taccgctcag acctgctcca gatgctggac acactggtct tctctagcct cctgctattt ggctttgcag agcagaagca gctgctggag gtggaactct acgcagacta tagagagaac tcgtacgtgc cgaccactgg agcgatcatt gagatccaca gcaagcgcat ccagctgtat ggagcctacc tccgcatcca cgcgcacttc actgggctca gatacctgct atacaacttc ccgatgacct gcgccttcat aggtgttgcc agcaacttca ccttcctcag cgtcatcgtg ctcttcagct acatgcagtg ggtgtggggg ggcatctggc cccgacaccg cttctctttg caggttaaca tccgaaaaag agacaattcc cggaaggaag tccaacgaag gatctctgct catcagccag ggcctgaagg ccaggaggag tcaactccgc aatcagatgt tacagaggat ggtgagagcc ctgaagatcc ctcagggaca gagggtcagc tgtccgagga ggagaaacca gatcagcagc ccctgagcgg agaagaggag ctagagcctg aggccagtga tggttcaggc tcctgggaag atgcagcttt gctgacggag gccaacctgc ctgctcctgc tcctgcttct gcttctgccc ctgtcctaga gactctgggc agctctgaac ctgctggggg tgctctccga cagcgcccca cctgctctag ttcctga. It is sometimes possible for the material contained within the vial of "BSCL2, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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