Metabolism Antibodies 2
Anti-LBR Antibody (CAB5468)
- SKU:
- CAB5468
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Metabolism
Description
Antibody Name: | Anti-LBR Antibody |
Antibody SKU: | CAB5468 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC IF |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-211 of human LBR (NP_002287.2). |
Application: | WB IHC IF |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:100 IF 1:50 - 1:100 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | 22Rv1, Mouse eye, Mouse spleen, Mouse lung |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-211 of human LBR (NP_002287.2). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MPSR KFAD GEVV RGRW PGSS LYYE VEIL SHDS TSQL YTVK YKDG TELE LKEN DIKP LTSF RQRK GGST SSSP SRRR GSRS RSRS RSPG RPPK SARR SASA SHQA DIKE ARRE VEVK LTPL ILKP FGNS ISRY NGEP EHIE RNDA PHKN TQEK FSLS QESS YIAT QYSL RPRR EEVK LKEI DSKE EKYV AKEL AVRT FEVT PIRA KDLE FGG |
Gene ID: | 3930 |
Uniprot: | Q14739 |
Cellular Location: | Multi-pass membrane protein, Nucleus inner membrane |
Calculated MW: | 70kDa |
Observed MW: | 68kDa |
Synonyms: | LBR, DHCR14B, LMN2R, PHA, TDRD18 |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | 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 |
NCBI Summary: | 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 Code: | Q14739 |
NCBI GenInfo Identifier: | 20141468 |
NCBI Gene ID: | 3930 |
NCBI Accession: | Q14739.2 |
UniProt Secondary Accession: | Q14739,Q14740, Q53GU7, Q59FE6, B2R5P3, |
UniProt Related Accession: | Q14739 |
Molecular Weight: | 615 |
NCBI Full Name: | Lamin-B receptor |
NCBI Synonym Full Names: | lamin B receptor |
NCBI Official Symbol: | LBR |
NCBI Official Synonym Symbols: | PHA; LMN2R; TDRD18; DHCR14B |
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 |
Protein Family: | Lamin-B receptor |
UniProt Gene Name: | LBR |
UniProt Entry Name: | LBR_HUMAN |
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