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Mutations in the GLUT1 gene are responsible for GLUT1 deficiency or De Vivo disease, which is a rare autosomal dominant disorder. [14] This disease is characterized by a low cerebrospinal fluid glucose concentration (hypoglycorrhachia), a type of neuroglycopenia, which results from impaired glucose transport across the blood–brain barrier.
The GLUT1 protein that transports glucose across the blood brain barrier is encoded by the SLC2A1 gene, located on chromosome 1. [8] In GLUT1 deficiency syndrome, one of the two genes is damaged by a mutation and an insufficient amount protein is made. As a result, insufficient glucose is passing the blood brain barrier.
Levels in cell membranes are increased by reduced glucose levels and decreased by increased glucose levels. GLUT1 expression is upregulated in many tumors. GLUT2: Is a bidirectional transporter, allowing glucose to flow in 2 directions. Is expressed by renal tubular cells, liver cells and pancreatic beta cells.
72961 Ensembl ENSG00000104888 ENSMUSG00000070570 UniProt Q9P2U7 Q3TXX4 RefSeq (mRNA) NM_020309 NM_182993 RefSeq (protein) NP_064705 NP_892038 Location (UCSC) Chr 19: 49.43 – 49.44 Mb Chr 7: 44.81 – 44.83 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Vesicular glutamate transporter 1 (VGLUT1) is a protein that in humans is encoded by the SLC17A7 gene. The protein encoded by this ...
A suspected contributor to familial PED is a mutation in the GLUT1 gene, SLC2A1, which codes for the transporter GLUT1, a protein responsible for glucose entry across the blood–brain barrier. [5] It is not thought that the mutation causes a complete loss of function of the protein but rather only slightly reduces the transporter's activity. [8]
As a result, GLUT1 facilitates a consistent glucose uptake from the bloodstream, ensuring a steady supply to tissues that rely on glucose. GLUT2 in contrast has a high Km value (15-20mM) and therefore a low affinity for glucose. They are located in the plasma membranes of hepatocytes and pancreatic beta cells (in mice, but GLUT1 in human beta ...
14661 Ensembl ENSG00000148672 ENSMUSG00000021794 UniProt P00367 P26443 RefSeq (mRNA) NM_005271 NM_001318900 NM_001318901 NM_001318902 NM_001318904 NM_001318905 NM_001318906 NM_008133 RefSeq (protein) NP_001305829 NP_001305830 NP_001305831 NP_001305833 NP_001305834 NP_001305835 NP_005262 NP_032159 Location (UCSC) Chr 10: 87.05 – 87.09 Mb Chr 14: 34.03 – 34.07 Mb PubMed search Wikidata View ...
Glutamate transporters are a family of neurotransmitter transporter proteins that move glutamate – the principal excitatory neurotransmitter – across a membrane.The family of glutamate transporters is composed of two primary subclasses: the excitatory amino acid transporter (EAAT) family and vesicular glutamate transporter (VGLUT) family.