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ALPP

Synonyms
ALP, ALPI, IAP, PALP, PLAP, PLAP-1
External resources
Summary
The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. The protein is primarily expressed in placental and endometrial tissue; however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
29
Likely pathogenic
0
VUS
9,531
Likely benign
2,234
Benign
0

Patient phenotypes

Proportions of phenotypes among 27 patients carring pathogenic or likely pathogenic variants on ALPP gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
44.4%
Abnormality of the nervous system
37%
Abnormality of the musculoskeletal system
33.3%
Abnormality of head or neck
29.6%
Abnormality of the ear
22.2%
Growth abnormality
14.8%
Abnormality of limbs
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormality of the digestive system
7.4%
Neoplasm
7.4%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the endocrine system
3.7%
Abnormality of the integument
3.7%
Abnormality of the respiratory system
3.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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