Pex7p Transport Role
Pex7p Transport Role
As previously stated, the location of the mutation causing the lethal RCDP1 phenotype has been narrowed down to the 10-exon PEX7 gene. wt PEX7 is translated as a cytosolic import receptor Pex7p, responsible for binding enzymes destined for the peroxisomal matrix marked by the N-terminal peroxisome-targeting signal 2 (PTS2). In a normal cell, the Pex7p receptor has a PTS2 receptor region that recognizes and binds the PTS2 of the localized protein in the cytosol, necessary for transport into the peroxisome (Braverman et al. 1993). Pex7p receptor works in conjunction with Pex5p receptor, which equivalently recognizes peroxisome-targeting signal 1 (PTS1) on the C-terminal domain of proteins. Once the mobile cytosolic import …show more content…
Infants can undergo cataract removal surgery to alleviate loss of vision. Due to the debilitating musculoskeletal issues accompanied with RCDP1, orthopedic physical therapy is recommended by physicians to aid with painful contractures. Anti-seizure medication is prescribed by doctors as epileptic episodes often outset. Sometimes input of a gastrostomy tube is necessary when feeding becomes rather difficult and food and liquids are constantly inhaled and taken into the airways (Braverman et al. 1993). Avoiding excessive accumulation of phytanic acid in the body can be accomplished by following a low-fat diet and omitting all foods high in phytanic acid from one’s diet, mainly attributed to meat from animals that graze on green plants, fish oils, and fatty dairy products (P. June Brown 2008). Respiratory infections are the leading cause of death for rhizomelic children due to the high degree of susceptibility. Caregivers must be conscientious of pulmonary hygiene in hopes to prolong the child’s life (Braverman et al. 1993). McGuinness et al demonstrated that plasmalogen levels can be increased with pharmacological use of sodium 4-butyrate (McGuinness et al.
As previously stated, the location of the mutation causing the lethal RCDP1 phenotype has been narrowed down to the 10-exon PEX7 gene. wt PEX7 is translated as a cytosolic import receptor Pex7p, responsible for binding enzymes destined for the peroxisomal matrix marked by the N-terminal peroxisome-targeting signal 2 (PTS2). In a normal cell, the Pex7p receptor has a PTS2 receptor region that recognizes and binds the PTS2 of the localized protein in the cytosol, necessary for transport into the peroxisome (Braverman et al. 1993). Pex7p receptor works in conjunction with Pex5p receptor, which equivalently recognizes peroxisome-targeting signal 1 (PTS1) on the C-terminal domain of proteins. Once the mobile cytosolic import …show more content…
Infants can undergo cataract removal surgery to alleviate loss of vision. Due to the debilitating musculoskeletal issues accompanied with RCDP1, orthopedic physical therapy is recommended by physicians to aid with painful contractures. Anti-seizure medication is prescribed by doctors as epileptic episodes often outset. Sometimes input of a gastrostomy tube is necessary when feeding becomes rather difficult and food and liquids are constantly inhaled and taken into the airways (Braverman et al. 1993). Avoiding excessive accumulation of phytanic acid in the body can be accomplished by following a low-fat diet and omitting all foods high in phytanic acid from one’s diet, mainly attributed to meat from animals that graze on green plants, fish oils, and fatty dairy products (P. June Brown 2008). Respiratory infections are the leading cause of death for rhizomelic children due to the high degree of susceptibility. Caregivers must be conscientious of pulmonary hygiene in hopes to prolong the child’s life (Braverman et al. 1993). McGuinness et al demonstrated that plasmalogen levels can be increased with pharmacological use of sodium 4-butyrate (McGuinness et al.