rs28936697
This is a variant in the PEX12 gene that changes a serine to an phenylalanine.
▶ClinVar annotation
Peroxisomal biogenesis disorder 3b; Peroxisome biogenesis disorder (PBD, ZSS); Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder type 3B
View on ClinVar →▶Research that mentions this SNP (1)
▶Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolismFunctionalGootjes J. et al.(2004)· Human Mutation
This functional study demonstrates that the chemical chaperone arginine improves peroxisome biogenesis and function in cultured skin fibroblasts from patients with mild Zellweger spectrum disorder (ZSD) carrying missense mutations in PEX1 (p.G843D), PEX6 (p.P274L, p.E439fsX3), or PEX12 (p.S320F). Arginine supplementation increased the proportion of peroxisome-positive cells, improved thiolase processing, and enhanced VLCFA β-oxidation capacity (4.5-10 fold) and pristanic acid oxidation (3-15 fold) in a dose- and time-dependent manner, suggesting potential therapeutic application for mild peroxisomal disorders.
About PEX12
This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
View all PEX12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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