Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

ALPL

From SNPedia
is agene
is mentioned by
Full namealkaline phosphatase, liver/bone/kidney
EntrezGene249
PheGenI249
VariationViewer249
ClinVarALPL
GeneCardsALPL
dbSNP249
DiseasesALPL
SADR249
HugeNav249
wikipediaALPL
googleALPL
gopubmedALPL
EVSALPL
HEFalMpALPL
MyGene2ALPL
23andMeALPL
UniProtP05186
EnsemblENSG00000162551
OMIM171760
# SNPs148
 Max MagnitudeChromosome positionSummary
i500275621,896,819
i500275721,890,596
i500275821,894,694
i500276521,900,274
i500276621,902,229
i500276921,903,131
i500277021,887,155
i500277121,890,681
i500277221,887,620
i500277321,900,176
i500277421,887,619
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
rs1057516230021,554,127
rs1057516293021,560,694
rs1057516334021,560,652
rs1057516443021,568,117
rs1057516526021,570,353
rs1057516622021,575,731
rs1057516702021,573,730
... 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