PDE6B Antibody

1. Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees. PMID: 25827439
2. Next-generation whole exome sequencing revealed a homozygous c.1923_1969ins6del47 nonsense PDE6B mutation, which has not been previously described, that segregated with the disease in the family. PMID: 24828262
3. The family was found to segregate novel mutations of two different genes: myosin VIIA (MYO7A), and phosphodiesterase 6B, which causes nonsyndromic retinitis pigmentosa. PMID: 23882135
4. The p.H557Y mutation in PDE6B, was homozygous in four patients and heterozygous in nine patients, and it was the most frequent mutation (2.5%) in Korean patients with retinitis pigmentosa. PMID: 23049240
5. Data indicate the upregulation of RREB1, PDE6B, and CD209 suggests that these proteins might play important roles in the differentiation of primitive gut tube cells from embryonic stem cells (hESCs) and in primitive gut tube development into pancreas. PMID: 21792086
6. Mutations have been identified in the beta-subunit of rod phosphodiesterase in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa. PMID: 21655355
7. Sp4 is a strong activator of transcription from the beta-PDE promoter PMID: 11943774
8. the rod cGMP-phosphodiesterase beta-subunit gene is transcriptionally and post-transcriptionally regulated [review] PMID: 17249578
9. Clinical and genetic characterization of a Chinese family with PDE6B is reported. PMID: 18188951
10. PDE6B genes and the phenotypic heterogeneity and particularly the severe ocular affection first observed in one Usher syndrome patient. PMID: 18854872
11. These studies indicate that the 3' UTR of the PDEbeta mRNA is involved in the complex regulation of this gene's expression in the retina. PMID: 19218616

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HGNC: 8786

OMIM: 163500

KEGG: hsa:5158

STRING: 9606.ENSP00000420295

UniGene: Hs.623810