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Search references for SEIPIN. Phrases containing SEIPIN
See searches and references containing SEIPIN!SEIPIN
Protein family
Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum (ER) that concentrates at junctions with cytoplasmic lipid droplets
Seipin
Lipid-rich cellular organelle found mainly in adipose tissue
protein seipin and its interacting partners. Seipin marks sites of LD biogenesis, and each cytoplasmic LD appears to associate with at least one seipin focus
Lipid_droplet
Protein-coding gene in the species Homo sapiens
Seipin is a protein that in humans is encoded by the BSCL2 gene. Mutations in BSCL2 are known to cause the following conditions: Congenital generalized
BSCL2
Genetic disorder; extreme lack of fat under the skin
encoding the seipin protein and located at 11q13. This gene encodes a protein, Seipin, whose function is unknown. Expression of mRNA for the seipin protein
Congenital generalized lipodystrophy
Congenital_generalized_lipodystrophy
Diseases caused by abnormal protein structure
(GFAP) Pelizaeus-Merzbacher disease Proteolipid protein (PLP) Seipinopathies Seipin Familial amyloidotic neuropathy, Senile systemic amyloidosis Transthyretin
Proteinopathy
Medical condition
2016. Ito, Daisuke; Suzuki, Norihiro (2007). "Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases". Annals of Neurology. 61 (3): 237–250
Distal hereditary motor neuropathy type V
Distal_hereditary_motor_neuropathy_type_V
Type of membrane protein that is permanently attached to the biological membrane
junction Proteins G protein coupled receptors (e.g., Beta-adrenergic receptor) Seipin Photosystem I Membrane protein Transmembrane protein Peripheral membrane
Integral_membrane_protein
One of two mechanisms by which proteins traffic to the lipid droplet (LD) surface
the ER through the Seipin-stabilized neck. By contrast, other class I proteins were shown to be initially rejected at the Seipin gate and appeared to
ERTOLD_pathway
Senegalese scientist
Porras AJ, Graham MM, Liu XN, Thiam AR, Savage DB, Agarwal AK, Garg A. Seipin is required for converting nascent to mature lipid droplets. elife. 2016
Abdou_Rachid_Thiam
Protein-coding gene in the species Homo sapiens
congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes". The Journal of Clinical Endocrinology and Metabolism. 88 (11): 5433–7
AGPAT2
Human gene and protein
(Human)] - Gene - NCBI". "BSCL2 BSCL2 lipid droplet biogenesis associated, seipin [Homo sapiens (Human)] - Gene - NCBI". "APOA5 apolipoprotein A5 [Homo sapiens
TMEM19
Israeli biologist
Reggiori F, Bankaitis VA, Schuldiner M & Bohnert M (2018). Identification of seipin-linked factors that act as determinants of a lipid droplet subpopulation
Maya_Schuldiner
Biological tissue housed in bone
Sen B, Xie Z, Styner MA, et al. (2022-01-25). "Exercise Increases Bone in SEIPIN Deficient Lipodystrophy, Despite Low Marrow Adiposity". Frontiers in Endocrinology
Bone_marrow_adipose_tissue
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