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Rabbit Anti-ANKLE2/FITC Conjugated antibody
background:
Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKLE2 (ankyrin repeat and LEM domain containing 2), also known as LEMD7, is a 938 amino acid single-pass membrane protein containing an ANK repeat and a LEM domain. Exsiting as two isoforms produced by alternative splicing events, the gene encoding ANKLE2 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and trisomy 12p, which causes facial developmental defects and seizure disorders.
Function:
Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex.
Subunit:
Interacts with BAF/BANF1. Interacts with protein phosphatase 2A (PP2A) components PPP2C (PPP2CA or PPP2CB) and PPP2R1A.
Subcellular Location:
Endoplasmic reticulum membrane; Single-pass type III membrane protein.
Similarity:
Belongs to the ANKLE2 family.
Contains 1 ANK repeat.
Contains 1 LEM domain.
Database links:
Entrez Gene: 23141 Human
SwissProt: Q86XL3 Human
Unigene: 654628 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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