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. Author manuscript; available in PMC: 2012 Jun 26.
Published in final edited form as: Brain Res Rev. 2010 Dec 8;67(1-2):103–118. doi: 10.1016/j.brainresrev.2010.11.004

Table 1.

Summary of molecular features and biological functions of mitochondrial structural genes

Name of the gene Chromosome location Molecular structure Functions
DRP1 12 Drp1 encodes 736 aminoacids (aa) (20 exons) with a mass of 80.6 kDa. It has (exon 15 is deleted); isoform 3 699 aa (exons 15 and 16 are deleted); isoform 4 with 725 aa; isoform 5 with 710 aa and isoform 6 with 749 aa. Drp1 establishes mitochondrial morphology through the distribution of mitochondrial tubules across the cytoplasm; Drp1 is involved in multiple functions, including mitochondrial fragmentation; it contains 6 spliced transcripts that encode various isoforms.
FIS1 7 Fis1 encodes 152 aa (with a mass of 17 kDa). Fis1 is a component of a mitochondrial complex that promotes mitochondrial fission.
MFN1 3 Mfn1 encodes a 741 aa; it has 3 isoforms/variants. Isoform 2 encodes 370 aa and isoform 3 encodes 630 aa. Mfn1 is a mediator of mitochondrial fusion; both mitofusion 1 and 2 facilitate mitochondrial targeting.
MFN2 1 Mfn2 encodes 757 aa, and isoform 2 encodes 436 aa. Mfn2 participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. Defects in Mfn2 are involved in causing Charcot-Marie-Tooth disease. It is involved in smooth muscle cell proliferation and may play a role in the pathophysiology of obesity.
OPA1 3 Opa1 encodes 960 aa (contains 29 exons) and isoform 2 encodes 997 aa. Opa1 is a nuclear-encoded mitochondrial protein; mutations in this gene lead to a loss of visual acuity; multiple transcript variants have been found in this gene.
TOMM40 19 TOMM40 encodes a 361 aa and isoform 2 encodes 329 aa. Tomm40 is a channel-forming subunit of the translocase of the mitochondrial outer membrane (TOMM). It is essential for protein transport into the mitochondria. Polymorphisms in Tomm40 has been found to occur more in late-onset AD patients.
CyPD (peptidylp rolyl isomease D) 3 Peptidylprolyl isomerase D encodes a 178 aa peptide that is found in the mitochondrion. CypD is a part of mitochondrial permeability transition pore in the inner mitochondrial membrane; activation of this protein can induce apoptotic and necrotic cell death.