full name
alkaline phosphatase, liver/bone/kidney

synonyms
AP-TNAP, APTNAP, HOPS, TNAP, TNSALP, ALPL, ENSG00000162551

HGNC
HGNC:438

Entrez Gene
Gene:249

ENSEMBL
ENSG00000162551

location
chr: 1
start: 21835475
stop: 21904905
strand: +

OMIM
OMIM:171760: ALPL (Autosomal dominant inheritance,Autosomal recessive inheritance)
OMIM:146300: Hypophosphatasia, adult
OMIM:241510: Hypophosphatasia, childhood
OMIM:241500: Hypophosphatasia, infantile
OMIM:146300: Odontohypophosphatasia

transcripts
ENST00000374840.3
ENST00000540617.1
ENST00000539907.1

pathways
Folate biosynthesis [NCBI:83018] [KEGG:hsa00790] [PUBMED:16632608] [PUBMED:19675644] [PUBMED:12571226] [PUBMED:18092812]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Post-translational modification: synthesis of GPI-anchored proteins [NCBI:1268710] [REACTOME:R-HSA-163125]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Thiamine metabolism [NCBI:83011] [KEGG:hsa00730] [PUBMED:12777485] [PUBMED:14567704] [PUBMED:22031445] [PUBMED:15614489] [PUBMED:19348578] [PUBMED:22616866]