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Description:Mitochondrial biogenesis requires the import of approximately up to 1000 proteins into mitochondria. The protein import pathway relies on hetero-oligomeric translocase complexes in both inner (TIMM) and outer (TOMM) mitochondrial membranes. The translocase in the outer membrane, the TOM complex, is composed of a core complex formed from the β-barrel channel Tom40 and additional subunits each with single, α-helical transmembrane segments. The master receptor subunit of the TOM complex, TOMM20, recognizes the targeting sequence on incoming mitochondrial precursor proteins, binds to these protein ligands, and then transfers them to the core complex for translocation across the outer membrane. Mutations in the transmembrane segment that destabilize TOMM20, prevent TOMM20 from functioning as a receptor for protein import into mitochondria. Mutant yeast cells that included a defective gene for TOMM20 homolog (MOM19) showed dramatically decrease in most of the respiratory chain enzyme activity. TOMM20 gene maps to chromosome 1q42.3. It contains 5 coding exons, and encodes for a protein of 145 amino acids. Reasons for Referral:
Testing Methodology:The exons and flanking intronic regions of the TOMM20 gene are PCR amplified and sequenced in both the forward and reverse directions. Specimen Requirements:Blood: EDTA (purple-top)
tubes: Adult: 14
cc; Child: 6 cc; Infant:
3 cc Turnaround Time: Index: 4 weeks CPT Codes and Prices:
Index: 83891, 83904x10, 83898x5, 83912, 83894x2
Shipping InformationForms:>> Gene Sequencing Requisition or Mitochondrial Requisition - Mitochondrial Diagnostic Checklist is included Test Code:
Index: 3475 |