ALPL
| is a | gene |
| is | mentioned by |
| Full name | alkaline phosphatase, liver/bone/kidney |
| EntrezGene | 249 |
| PheGenI | 249 |
| VariationViewer | 249 |
| ClinVar | ALPL |
| GeneCards | ALPL |
| dbSNP | 249 |
| Diseases | ALPL |
| SADR | 249 |
| HugeNav | 249 |
| wikipedia | ALPL |
| ALPL | |
| gopubmed | ALPL |
| EVS | ALPL |
| HEFalMp | ALPL |
| MyGene2 | ALPL |
| 23andMe | ALPL |
| UniProt | P05186 |
| Ensembl | ENSG00000162551 |
| OMIM | 171760 |
| # SNPs | 148 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5002756 | 21,896,819 | ||
| i5002757 | 21,890,596 | ||
| i5002758 | 21,894,694 | ||
| i5002765 | 21,900,274 | ||
| i5002766 | 21,902,229 | ||
| i5002769 | 21,903,131 | ||
| i5002770 | 21,887,155 | ||
| i5002771 | 21,890,681 | ||
| i5002772 | 21,887,620 | ||
| i5002773 | 21,900,176 | ||
| i5002774 | 21,887,619 | ||
| i5012683 | |||
| i5012684 | |||
| i5012686 | |||
| i5900451 | |||
| i6006888 | |||
| i6006889 | |||
| i6006890 | |||
| i6006895 | |||
| i6006897 | |||
| i6006912 | |||
| i6006921 | |||
| i6006925 | |||
| i6006926 | |||
| i6006927 | |||
| i6006933 | |||
| i6006940 | |||
| i6006944 | |||
| i6006946 | |||
| i6006947 | |||
| i6006948 | |||
| i6006951 | |||
| i6006953 | |||
| i6006956 | |||
| i6006962 | |||
| i6006969 | |||
| i6006989 | |||
| i6006991 | |||
| i6006996 | |||
| i6007004 | |||
| i6007018 | |||
| i6007029 | |||
| i6007032 | |||
| rs1057516230 | 0 | 21,554,127 | |
| rs1057516293 | 0 | 21,560,694 | |
| rs1057516334 | 0 | 21,560,652 | |
| rs1057516443 | 0 | 21,568,117 | |
| rs1057516526 | 0 | 21,570,353 | |
| rs1057516622 | 0 | 21,575,731 | |
| rs1057516702 | 0 | 21,573,730 | |
| ... further results | |||
The ALPL gene provides instructions for making an enzyme called tissue-nonspecific alkaline phosphatase (TNSALP). This enzyme plays an important role in the growth and development of bones and teeth. It is also active in many other tissues, particularly in the liver and kidneys.GHR
About 300 mutations in the ALPL gene have been identified in people with hypophosphatasia. Most of these mutations change a single protein building block (amino acid) in TNSALP. Other mutations insert or delete genetic material in the ALPL gene or change the way the gene's instructions are used to build the enzyme.GHR
Mutations in the ALPL gene lead to the production of an abnormal version of TNSALP that cannot participate effectively in the mineralization of developing bones and teeth. A shortage of functional TNSALP allows substances that are normally processed by the enzyme to build up in the body. Researchers believe that a buildup of one of these compounds, inorganic pyrophosphate, underlies the defective mineralization of bones and teeth in people with hypophosphatasia.GHR
ALPL mutations that almost completely eliminate the activity of TNSALP usually result in the more severe forms of hypophosphatasia. Other mutations, which reduce but do not eliminate the activity of the enzyme, are often responsible for milder forms of the condition.GHR
The severe forms of hypophosphatasia that appear early in life are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.GHR
Milder forms of hypophosphatasia can have either an autosomal recessive or an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder.GHR
