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PPA2

Synonyms
HSPC124, SCFAI, SCFI, SID6-306
External resources
Summary
The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
6
Likely pathogenic
1
VUS
2,510
Likely benign
1,686
Benign
114

Patient phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on PPA2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
57.1%
Abnormality of limbs
42.9%
Abnormality of the eye
42.9%
Abnormality of the musculoskeletal system
42.9%
Abnormality of head or neck
28.6%
Growth abnormality
28.6%
Abnormality of the breast
14.3%
Abnormality of the cardiovascular system
14.3%
Abnormality of the integument
14.3%
Neoplasm
14.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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