Ads
related to: gangliosidosis gm2 mutation cancer
Search results
Results From The WOW.Com Content Network
GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Mutations in the GM2A gene cause AB variant. The GM2A gene provides instructions for making a protein called the GM2 activator.
14667 Ensembl ENSG00000196743 ENSMUSG00000000594 UniProt P17900 Q60648 RefSeq (mRNA) NM_001167607 NM_000405 NM_010299 RefSeq (protein) NP_000396 NP_001161079 NP_034429 Location (UCSC) Chr 5: 151.21 – 151.27 Mb Chr 11: 54.99 – 55 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse GM2 ganglioside activator also known as GM2A is a protein which in humans is encoded by the GM2A gene ...
It was eventually determined that GM2 gangliosidosis could be caused by mutations on three distinct genes, one of which was an activator protein. Disease caused by a mutation that disables this protein was termed AB variant. [8] In 1992, the GM2A gene itself was localized to chromosome 5, [9] and the precise locus was determined the following ...
GM 2 gangliosidosis refers to several similar genetic disorders: Tay–Sachs disease; ... GM2-gangliosidosis, AB variant This page was last edited on 28 August 2023 ...
Sandhoff disease is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. [1] [2] These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, [1] and some oligosaccharides.
Isabella Strahan celebrates being cancer-free in the Bahamas in Dec. 2024. Isabella Strahan is living life to the fullest over a year after being diagnosed and treated for a malignant brain tumor.
Tay–Sachs disease (along with AB-variant GM2-gangliosidosis and Sandhoff disease) occurs because a mutation inherited from both parents deactivates or inhibits this process. Most Tay–Sachs mutations probably do not directly affect protein functional elements (e.g., the active site).
Related: Dick Vitale Says His Vocal Cord Cancer Is ‘Gone’ but Will Wait to Return to ESPN Broadcasting Job In a Dec. 5 update , Vitale said, “I feel terrific but have lots of anxiety about ...