PDE6 beta peptide (ab5890)

関連情報

• 別名
  • 5''-cyclic phosphodiesterase subunit beta
  • Congenital stationary night blindness 3 autosomal dominant
  • CSNB 3

  • CSNB3
  • CSNBAD2
  • GMP PDE beta
  • GMP-PDE beta
  • PDE 6 beta
  • PDE 6B
  • PDE6B
  • PDE6B_HUMAN
  • PDEB
  • Phosphodiesterase 6B
  • Phosphodiesterase 6B cGMP specific rod beta
  • Rd 1
  • Rd1
  • Rod cGMP phosphodiesterase beta subunit
  • Rod cGMP specific 3' 5' cyclic phosphodiesterase beta subunit
  • Rod cGMP-specific 3''
  • RP40

  see all
• 機能
  This protein participates in processes of transmission and amplification of the visual signal. Necessary for the formation of a functional phosphodiesterase holoenzyme.
• 関連疾患
  Defects in PDE6B are the cause of retinitis pigmentosa type 40 (RP40) [MIM:613801]. RP40 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
  Defects in PDE6B are a cause of congenital stationary night blindness autosomal dominant type 2 (CSNBAD2) [MIM:163500]; also known as congenital stationary night blindness Rambusch type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision.
• 配列類似性
  Belongs to the cyclic nucleotide phosphodiesterase family.
  Contains 2 GAF domains.
• 細胞内局在
  Membrane.

• Target information above from: UniProt accession P35913 The UniProt Consortium
  The Universal Protein Resource (UniProt) in 2010
  Nucleic Acids Res. 38:D142-D148 (2010) .

  Information by UniProt