Lamp2 gene

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August undefined, 2024

Tīmeklis2024. gada 8. dec. · LAMP2 lysosomal associated membrane protein 2 [ Homo sapiens (human) ] Gene ID: 3920, updated on 8-Dec-2024 Download Datasets Summary … TīmeklisLAMP2 gene sequences were normal in the mothers of three affected male probands (SS, LS, and NR), and mitochondrial DNA polymorphisms confirmed biologic maternity (data not shown).

LAMP2 Gene - Somatic Mutations in Cancer - Wellcome …

Tīmeklis2024. gada 11. janv. · The LAMP2 gene maps to the chromosome region Xq24, its open reading frame consists of 1,233 nucleotides and encodes 410 amino acids. Exons 1–8 and part of exon 9 encode the luminal domain; the remainder of exon 9 encodes a transmembrane domain and a cytoplasmic tail ( Nishino et al., 2000; Cenacchi et al., … TīmeklisLAMP2 is part of cluster 70 Brain - Nervous system development with confidence i Confidence is the fraction of times a gene was assigned to the cluster in repeated … capital bra herkunft

Danon Disease - StatPearls - NCBI Bookshelf

Lysosome-associated membrane protein 2 (LAMP2), also known as CD107b (Cluster of Differentiation 107b) and Mac-3, is a human gene. Its protein, LAMP2, is one of the lysosome-associated membrane glycoproteins. The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. … Tīmeklis2024. gada 9. marts · Lamp2 lysosomal-associated membrane protein 2 [ (house mouse)] Gene ID: 16784, updated on 9-Mar-2024 Summary Enables protein domain specific binding activity. Involved in several processes, including autophagosome maturation; protein stabilization; and protein targeting to lysosome involved in … TīmeklisThe LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is … capi2032.dll windows 10 64 bit

LAMP1 - Wikipedia

Tīmeklis2016. gada 14. sept. · Using expression microarrays, we have identified 404 genes differentially expressed between NE-differentiated and non-differentiated LNCaP cells. Among them, 155 genes were up-regulated including LAMP2, and 249 genes were down-regulated in NE cells. LAMP2 plays an important role in lysosomal stability as … Tīmeklis2024. gada 8. janv. · Lysosome-associated membrane protein-2 (LAMP2), is a highly glycosylated lysosomal membrane protein involved in chaperone mediated autophagy. Mutations of LAMP2 cause the classic triad of myopathy, cardiomyopathy and encephalopathy of Danon disease (DD). Additionally, retinopathy has also been … cape town industrial areasTīmeklis2024. gada 25. nov. · Danon disease (DD) is a rare glycogen storage lysosomal disorder caused by mutations in the LAMP2 gene. Patients with DD are usually characterized clinically by severe multisystem syndromes. We describe a specific family with a novel pathogenic splice-altering mutation in the LAMP2 gene (c.741+2T>C) with cardiac … capital budget rationing

"Tīmeklis2024. gada 21. marts · LAMP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different) ... (the MHC II compartment) that … " - Lamp2 gene

Lamp2 gene

Lamp2 lysosomal-associated membrane protein 2 [Mus musculus …

TīmeklisIs expressed in cardiovascular system; heart; solid lens vesicle; vein; and yolk syncytial layer. Used to study Danon disease. Human ortholog(s) of this gene implicated in … TīmeklisClinVar archives and aggregates information about relationships among variation and human health.

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Tīmeklis2024. gada 25. marts · LAMP2A originates from the alternative splicing of the LAMP2 gene, which contains nine exons, including three different splice variants of the exon 9 (A, B, and C) ( Fig. 1A ). All splice variants share a common luminal domain but contain distinct cytosolic and transmembrane regions. TīmeklisTwo gene mutations (PRKAG2 and LAMP2) causing glycogen storage disease have recently been recognized as primary cardiomyopathies mimicking HCM.125,126 …

Tīmeklis2024. gada 21. marts · LAMP1 (Lysosomal Associated Membrane Protein 1) is a Protein Coding gene. Diseases associated with LAMP1 include Mumps and Chediak-Higashi … Tīmeklis11 rindas · LAMP2 Addgene Alerts Receive email alerts when new plasmids with this gene become available. Log in to subscribe to Addgene Alerts. Description …

Tīmeklisin or near a single gene multiple genes because genes are close or overlap multiple genes because variant is large. Distinguish antisense genes from sense genes. ClinVar version: 2024-02-26 2024-12-31 2024-12-02 2024-12-04 2024-12-04 2014-12-01 2013-12-03. Total variants: 653. Download table as spreadsheet. HGVS. TīmeklisIn age-related macular degeneration (AMD), hydroquinone (HQ)-induced oxidative damage in retinal pigment epithelium (RPE) is believed to be an early event contributing to dysregulation of inflammatory cytokines and vascular endothelial growth factor (VEGF) homeostasis. However, the roles of antioxidant mechanisms, such as …

TīmeklisDue to enhanced expression of LAMP2 glycoproteins caused by LAMP1 gene deficits, LAMP1 and LAMP2 expression are related (11). Therefore, it is believed that the two have comparable in vivo functions.

TīmeklisLamp2 Gene Detail Summary Symbol. Lamp2 Name. lysosomal-associated membrane protein 2. Synonyms. ... Gene Model ID Feature Type Coordinates Select Strains; … capital campaign brochure templateTīmeklis2024. gada 8. febr. · LAMP2 gene encodes for three proteins, LAMP2A, LAMP2B, and LAMP2C, through an event of alternative splicing involving the exon 9 (in human) 5. The three isoforms share an identical luminal... capillary drhp capillary type waterproofingTīmeklisLAMP2 Gene - Somatic Mutations in Cancer Gene GRCh38 · COSMIC v97 Gene view The gene view histogram is a graphical view of mutations across LAMP2. These mutations are displayed at the amino acid level across the full length of … capital city bank hastings flTīmeklis2024. gada 1. apr. · Danon disease (DD) is a rare, X-linked monogenic cardiomyopathy caused by mutations in the LAMP2 gene which is essential for autophagy. In male patients, DD is characterized by a severe, progressive hypertrophic cardiomyopathy and arrhythmias resulting in median mortality under 20 years (y). capital city of tibet crosswordTīmeklis2024. gada 28. aug. · Background. Human mutations in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene can cause a multisystem Danon disease or a primary cardiomyopathy characterized by massive hypertrophy, conduction system abnormalities, and malignant ventricular arrhythmias.We … capital city sunday wkowTīmeklisNext-day shipping cDNA ORF clones derived from LAMP2 lysosomal associated membrane protein 2 available at GenScript, starting from $99.00. capital baptist church washington dc