GNAT2 Antibody

1. The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). PMID: 23362848
2. Single nucleotide polymorphisms in GNAT2 gene is associated with obesity. PMID: 23563607
3. Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. PMID: 21267001
4. Expression of GNAT2 transgene, when found in rod photoreceptor cells rather than in cones, demonstrates different mechanisms of amplification in the body's G-protein alpha cascades and the activation of phosphodiesterase 6. PMID: 20603337
5. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. PMID: 21107338
6. mutations in GNAT2 are implicated in achromatopsia PMID: 12077706
7. We detected a deletion of a highly conserved lysine at codon 270 in a critical functional area of the alpha-cone transducin molecule, and therefore is not the disease causing mutation. PMID: 15094710

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HGNC: 4394

OMIM: 139340

KEGG: hsa:2780

STRING: 9606.ENSP00000251337

UniGene: Hs.36973