ALPL Chromosome 1

Alkaline phosphatase, biomineralization associated

420 variants 420 Health Risk

Upload your DNA to see your personal genotypes for variants in ALPL.

What This Gene Does

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. [provided by RefSeq, Oct 2015]

Gene Info

Gene Group

Alkaline phosphatases

Locus Type

gene with protein product

Location

1p36.12

Ensembl

ENSG00000162551

Associated Conditions (24)

Hypophosphatasia

Infantile hypophosphatasia

ALPL-related disorder

Decreased circulating alkaline phosphatase activity

Adult hypophosphatasia

Childhood hypophosphatasia

Multiple epiphyseal dysplasia

Odontohypophosphatasia

Inborn genetic diseases

Osteogenesis imperfecta

Autosomal recessive ALPL-related disorders

Hypophosphataemia or rickets

Hepatocellular carcinoma

See cases

ALPL-related autosomal recessive hypophosphatasia

Alpha thalassemia-X-linked intellectual disability syndrome

Microcephaly

Melanoma

Ovarian serous cystadenocarcinoma

Perinatal lethal hypophosphatasia

+4 more conditions

Key Variants

RS1002385454

Conflicting classifications of pathogenicity

Hypophosphatasia, Infantile hypophosphatasia, Hypophosphatasia

Health Risk

RS1015578994

Conflicting classifications of pathogenicity

Hypophosphatasia, ALPL-related disorder, Hypophosphatasia

Health Risk

RS1057524727

Conflicting classifications of pathogenicity

Hypophosphatasia, Hypophosphatasia

Health Risk

RS1114167438

Conflicting classifications of pathogenicity

Decreased circulating alkaline phosphatase activity, Hypophosphatasia, Adult hypophosphatasia

Health Risk

RS1131691372

Conflicting classifications of pathogenicity

Health Risk

RS11586344

Conflicting classifications of pathogenicity

Hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia

Health Risk

RS1205971311

Conflicting classifications of pathogenicity

Hypophosphatasia, Infantile hypophosphatasia, Adult hypophosphatasia

Health Risk

RS1208855163

Conflicting classifications of pathogenicity

Adult hypophosphatasia, Hypophosphatasia, Childhood hypophosphatasia

Health Risk

RS121918006

Conflicting classifications of pathogenicity

Infantile hypophosphatasia, Hypophosphatasia, Infantile hypophosphatasia

Health Risk

RS121918017

Conflicting classifications of pathogenicity

Infantile hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia

Health Risk

RS121918018

Conflicting classifications of pathogenicity

Childhood hypophosphatasia, Odontohypophosphatasia, Infantile hypophosphatasia

Health Risk

RS1220125702

Conflicting classifications of pathogenicity

Inborn genetic diseases, Adult hypophosphatasia, Hypophosphatasia

Health Risk

All Variants (420)

RSID	Category	Clinical Significance	Conditions
RS2545351182	Health Risk	Likely pathogenic	Hypophosphatasia, Hypophosphatasia
RS2545351622	Health Risk	Likely pathogenic	Hypophosphatasia, Hypophosphatasia
RS2545351691	Health Risk	Likely pathogenic	Adult hypophosphatasia, Adult hypophosphatasia
RS371243939	Health Risk	Likely pathogenic	Infantile hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia
RS566317085	Health Risk	Likely pathogenic	Hypophosphatasia, Hypophosphatasia
RS748031071	Health Risk	Likely pathogenic	Infantile hypophosphatasia, Hypophosphatasia, Infantile hypophosphatasia
RS748250829	Health Risk	Likely pathogenic	—
RS751625937	Health Risk	Likely pathogenic	Hypophosphatasia, Hypophosphatasia
RS757771793	Health Risk	Likely pathogenic	Hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia
RS763073466	Health Risk	Likely pathogenic	Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia
RS763159520	Health Risk	Likely pathogenic	Inborn genetic diseases, Infantile hypophosphatasia, Hypophosphatasia
RS764322898	Health Risk	Likely pathogenic	Infantile hypophosphatasia, ALPL-related disorder, Ovarian serous cystadenocarcinoma
RS768053120	Health Risk	Likely pathogenic	Childhood hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia
RS769020799	Health Risk	Likely pathogenic	Infantile hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia
RS769955594	Health Risk	Likely pathogenic	ALPL-related disorder, Hypophosphatasia, ALPL-related disorder
RS773075737	Health Risk	Likely pathogenic	—
RS774870859	Health Risk	Likely pathogenic	—
RS780790767	Health Risk	Likely pathogenic	Infantile hypophosphatasia, Infantile hypophosphatasia
RS786204473	Health Risk	Likely pathogenic	Infantile hypophosphatasia, Hypophosphatasia, Hypophosphatasia
RS889640594	Health Risk	Likely pathogenic	Adult hypophosphatasia, Adult hypophosphatasia
RS916300043	Health Risk	Likely pathogenic	Infantile hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia
RS1057516230	Health Risk	Pathogenic	Infantile hypophosphatasia, Hypophosphatasia, Infantile hypophosphatasia
RS1057516334	Health Risk	Pathogenic	Infantile hypophosphatasia, Adult hypophosphatasia, Childhood hypophosphatasia
RS1057516526	Health Risk	Pathogenic	Infantile hypophosphatasia, Infantile hypophosphatasia
RS1057516702	Health Risk	Pathogenic	Infantile hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia
RS1172381352	Health Risk	Pathogenic	Hypophosphatasia, Hypophosphatasia
RS121918000	Health Risk	Pathogenic	Infantile hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia
RS121918003	Health Risk	Pathogenic	Infantile hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia
RS121918008	Health Risk	Pathogenic	Adult hypophosphatasia, Infantile hypophosphatasia, Hypophosphatasia
RS121918012	Health Risk	Pathogenic	Childhood hypophosphatasia, Infantile hypophosphatasia, Hypophosphatasia
RS121918015	Health Risk	Pathogenic	Odontohypophosphatasia, Hypophosphatasia, Odontohypophosphatasia
RS121918020	Health Risk	Pathogenic	Infantile hypophosphatasia, Childhood hypophosphatasia, Hypophosphatasia
RS1280398041	Health Risk	Pathogenic	Hypophosphatasia, Hypophosphatasia
RS1312528958	Health Risk	Pathogenic	Hypophosphatasia, Infantile hypophosphatasia, Hypophosphatasia
RS1320839573	Health Risk	Pathogenic	Hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia
RS1362833043	Health Risk	Pathogenic	—
RS1442918125	Health Risk	Pathogenic	Infantile hypophosphatasia, Childhood hypophosphatasia, Adult hypophosphatasia
RS1553411779	Health Risk	Pathogenic	Infantile hypophosphatasia, Infantile hypophosphatasia
RS1553411890	Health Risk	Pathogenic	Infantile hypophosphatasia, Infantile hypophosphatasia
RS1553411920	Health Risk	Pathogenic	Infantile hypophosphatasia, Infantile hypophosphatasia
RS1553412310	Health Risk	Pathogenic	Infantile hypophosphatasia, Infantile hypophosphatasia
RS1553413512	Health Risk	Pathogenic	Infantile hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia
RS1553414079	Health Risk	Pathogenic	Infantile hypophosphatasia, Hypophosphatasia, ALPL-related disorder
RS1553414133	Health Risk	Pathogenic	Infantile hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia
RS1553414560	Health Risk	Pathogenic	Infantile hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia
RS1553414843	Health Risk	Pathogenic	Infantile hypophosphatasia, Hypophosphatasia, Infantile hypophosphatasia
RS1553415041	Health Risk	Pathogenic	Infantile hypophosphatasia, Adult hypophosphatasia, Hypophosphatasia
RS1558543066	Health Risk	Pathogenic	Infantile hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia
RS1558549099	Health Risk	Pathogenic	Decreased circulating alkaline phosphatase activity, Decreased circulating alkaline phosphatase activity
RS1558549798	Health Risk	Pathogenic	Adult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia

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