Chromosome - 2 SNP - rs36089250 Gene Name - ATP5g3

Basic Information

Genotype Frequency
  • TT
Allele Frequency
  • T

SNP Expression Description

General SNP Description

More research is being conducted on this SNP. This gene encodes for a mitochondrial enzyme, ATP Synthase, which produces ATP in the mitochondria of each cell, this is the main source of energy for each cell. ATP is produced from an ADP molecule and electrochemical proton gradient (H+) across the inner mitochondrial membrane by a process called oxidative phosphorylation. Possible disease association for this gene includes: Batten Disease, Spindle Cell Hemangioma, Neuronal Ceroid Lipofuscinosis.  Neuronal Ceroid Lipofuscinosis for a family of at least 8 genetically separate neurodegenerative disorders that result from excessive accumulation of fats and proteins in neuronal cells and body’s tissues including: liver, spleen, heart muscle, and kidneys. Batten Disease is the most common type of a group of disorders called Neuronal Ceroid Lipofuscinosis. It is a rare fatal autosomal recessive  disease that begins in early childhood ages 2-10, but it is terminal. Affected children will usually have a progression of symptoms such as: seizures, loss of eyesight, impaired speech and motor skills.  Life expectancy varies with age and variation of this disease. Spindle Cell Hemangioma is a tumor arising from endothelial cells, which line the lymphatic vessels, blood vessels as well as the heart. This tumor can be either benign or malignant.

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