Q14739.2
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Lamin-B receptor
NCBI Official Synonym Full Names
lamin B receptor
NCBI Protein Information
lamin-B receptor; tudor domain containing 18; integral nuclear envelope inner membrane protein
UniProt Protein Name
Lamin-B receptor
UniProt Synonym Protein Names
Integral nuclear envelope inner membrane protein; LMN2R
UniProt Entry Name
LBR_HUMAN
NCBI Summary for LBR
The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
UniProt Comments for LBR
LBR: Anchors the lamina and the heterochromatin to the inner nuclear membrane. Defects in LBR are a cause of Pelger-Huet anomaly (PHA). PHA is an autosomal dominant inherited abnormality of neutrophils, characterized by reduced nuclear segmentation and an apparently looser chromatin structure. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities. Defects in LBR are the cause of hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM); also known as Greenberg skeletal dysplasia. HEM is a rare autosomal recessive chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected fetuses typically present with fetal hydrops, short- limbed dwarfism, and a marked disorganization of chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations. Defects in LBR may be a cause of Reynolds syndrome (REYNS). It is a syndrome specifically associating limited cutaneous systemic sclerosis and primary biliray cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis. Belongs to the ERG4/ERG24 family.
Protein type: Membrane protein, multi-pass; Membrane protein, integral; DNA-binding
Chromosomal Location of Human Ortholog: 1q42.1
Cellular Component: nuclear membrane; membrane; integral to membrane; integral to nuclear inner membrane; nuclear envelope
Molecular Function: protein binding; DNA binding; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; lamin binding
Biological Process: cholesterol biosynthetic process
Disease: Pelger-huet Anomaly; Greenberg Dysplasia; Reynolds Syndrome
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Products associated with anti-LBR antibody
Pathways associated with anti-LBR antibody
Diseases associated with anti-LBR antibody
Organs/Tissues associated with anti-LBR antibody
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