Entity Details

Primary name P4HTM
Entity type gene
Source Source Link

Details

PrimaryID54681
RefseqGene
SymbolP4HTM
Nameprolyl 4-hydroxylase, transmembrane
Chromosome3
Location3p21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-26
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsP4HTM_HUMAN

GO terms

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GOName
GO:0005506 iron ion binding
GO:0005509 calcium ion binding
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016021 integral component of membrane
GO:0016706 2-oxoglutarate-dependent dioxygenase activity
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline
GO:0031418 L-ascorbic acid binding
GO:0045646 regulation of erythrocyte differentiation

Diseases

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Disease IDSourceNameDescription
618493 OMIMHypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA)An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions