UniProt | Protein Name |
---|---|
O15528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
calcium ion transport | ||
negative regulation of calcidiol 1-monooxygenase activity | ||
G1 to G0 transition | ||
response to estrogen | ||
response to lipopolysaccharide |
GO Term | Evidence Code | PMID |
---|---|---|
cytoplasm | ||
mitochondrial outer membrane |
|
|
mitochondrion |
GO Term | Evidence Code | PMID |
---|---|---|
iron ion binding | ||
secalciferol 1-monooxygenase activity | ||
calcidiol 1-monooxygenase activity | ||
heme binding |
HPO ID | HPO Term |
---|---|
HP:0003020 | Enlargement of the wrists |
HP:0003025 | Metaphyseal irregularity |
HP:0003029 | Enlargement of the ankles |
HP:0003106 | Subperiosteal bone resorption |
HP:0003155 | Elevated circulating alkaline phosphatase concentration |
HP:0003165 | Elevated circulating parathyroid hormone level |
HP:0003698 | Difficulty standing |
HP:0004322 | Short stature |
HP:0004492 | Widely patent fontanelles and sutures |
HP:0005042 | Irregular, rachitic-like metaphyses |
Disease ID | Disease Name |
---|---|
OMIM:264700 |
|
ORPHA:289157 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
106833020 | EQUAS16531 | ||
116828443 | CHEAB02758 | ||
105307396 | PTEVA12181 | ||
115389179 | SALFA35747 | ||
105500481 | COLAP17174 | ||
105816771 | PROCO09608 | ||
103742896 | NANGA23262 | ||
116436601 | CORMO16309 | ||
103264442 | CARSF20940 | ||
108309743 | CEBIM14960 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024