功能： disease:Defects in LMNB2 are a cause of partial acquired lipodystrophy (APL) [MIM:608709]; also called Barraquer-Simons syndrome. APL is a rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidaemia, and complement deficiency. Mental retardation in some cases. APL is a sporadic disorder of unknown aetiology.,function:Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.,miscellaneous:The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.,PTM:B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.,similarity:Belongs to the intermediate filament family.,subunit:Interacts with TMEM43.,
功能： disease:Defects in LMNB2 are a cause of partial acquired lipodystrophy (APL) [MIM:608709]; also called Barraquer-Simons syndrome. APL is a rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidaemia, and complement deficiency. Mental retardation in some cases. APL is a sporadic disorder of unknown aetiology.,function:Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin.,miscellaneous:The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.,PTM:B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin associations.,similarity:Belongs to the intermediate filament family.,subunit:Interacts with TMEM43.,
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