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ALPL

Synonyms
AP-TNAP, APTNAP, HOPS, HPPA, HPPC, HPPI, HPPO, TNALP, TNAP, TNSALP
External resources
Summary
This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects.

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
6
Likely pathogenic
92
VUS
3,862
Likely benign
531
Benign
0

Patient phenotypes

Proportions of phenotypes among 97 patients carring pathogenic or likely pathogenic variants on ALPL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
30.9%
Abnormality of the cardiovascular system
24.7%
Abnormality of the musculoskeletal system
20.6%
Abnormality of the ear
15.5%
Abnormality of head or neck
13.4%
Abnormality of the eye
11.3%
Abnormality of the genitourinary system
11.3%
Growth abnormality
10.3%
Abnormality of blood and blood-forming tissues
8.2%
Abnormality of the immune system
8.2%
Abnormality of the digestive system
6.2%
Abnormality of limbs
5.2%
Abnormality of the integument
4.1%
Neoplasm
4.1%
Abnormality of the endocrine system
3.1%
Abnormality of prenatal development or birth
2.1%
Abnormality of the respiratory system
2.1%
Constitutional symptom
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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