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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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 11q12.3
Cellular Component: integral component of endoplasmic reticulum membrane
Molecular Function: protein binding
Biological Process: fat cell differentiation; lipid catabolic process; lipid storage; negative regulation of lipid catabolic process
Disease: Encephalopathy, Progressive, With Or Without Lipodystrophy; Lipodystrophy, Congenital Generalized, Type 2; Neuronopathy, Distal Hereditary Motor, Type Va; Spastic Paraplegia 17, Autosomal Dominant
Reference #:  Q96G97 (UniProtKB)
Alt. Names/Synonyms: Berardinelli-Seip congenital lipodystrophy 2 (seipin); Bernardinelli-Seip congenital lipodystrophy 2 (seipin); Bernardinelli-Seip congenital lipodystrophy type 2 protein; BSCL2; FLJ16651; GNG3LG; HMN5; MGC4694; Seipin; SPG17
Gene Symbols: BSCL2
Molecular weight: 44,392 Da
Basal Isoelectric point: 5.07  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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