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]
