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TOR1AIP1 encodes a type 2 integral membrane protein that binds A- and B-type laminins. Zusätzlich bieten wir Ihnen TOR1AIP1 Antikörper (29) und und viele weitere Produktgruppen zu diesem Protein an.
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All seven patients are homozygous for a nonsense mutation in the TOR1AIP1 gene resulting in the loss of both protein isoforms LAP1B and LAP1C.
LAP1 protein encoded by TOR1AIP1 may play a role in dysferlinopathy pathogenesis
LAP1 co-localizes with acetylated alpha-tubulin in the mitotic spindle and with gamma-tubulin in centrosomes (main microtubule organizing center) in mitotic cells.
Data show that mutation of arginine 563 in lamina-associated polypeptide 1 (LAP1) reduces its ability to stimulate TorsinA ATPase hydrolysis.
study described a new autosomal recessive nuclear envelope disease caused by a homozygous mutation in exon 1 of TOR1AIP1 encoding LAP1B; study expands the spectrum of genes associated with nuclear envelopathies and highlights critical function for LAP1B in striated muscle
Data indicate that the protein phosphatase 1 (PP1) binding domain in nuclear membrane protein lamina associated polypeptide 1B (LAP1B) was here identified as the REVRF motif at amino acids 55-59.
Molecular cloning of LAP1B & the role of the protein domains in localization of LAP1B to nuclear and endoplasmic reticulum membranes was determined
LAP1 interacts physically and functionally with emerin and plays an essential and selective role in skeletal muscle maintenance.
This gene encodes a type 2 integral membrane protein that binds A- and B-type laminins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants.
lamin-associated protein 1B
, lamina associated polypeptide 1B
, lamina-associated polypeptide 1B
, torsin-1A-interacting protein 1
, lamina-associated polypeptide 1C