UniProt | Protein Name |
---|---|
P04180 |
|
A0A140VK24 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cholesterol homeostasis | ||
cholesterol transport | ||
phosphatidylcholine biosynthetic process | ||
phosphatidylcholine metabolic process | ||
cholesterol metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
high-density lipoprotein particle | ||
extracellular region |
|
|
extracellular space | ||
extracellular exosome |
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylcholine-sterol O-acyltransferase activity | ||
sterol esterase activity | ||
platelet-activating factor acetyltransferase activity | ||
apolipoprotein A-I binding | ||
protein binding |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110204 | Charcot-Marie-Tooth disease recessive intermediate B | |
DOID:0110205 | Charcot-Marie-Tooth disease dominant intermediate E | |
DOID:0110206 | Charcot-Marie-Tooth disease dominant intermediate F | |
DOID:0110207 | Charcot-Marie-Tooth disease X-linked dominant 6 | |
DOID:0110208 | Charcot-Marie-Tooth disease X-linked recessive 2 | |
DOID:0110209 | Charcot-Marie-Tooth disease X-linked dominant 1 | |
DOID:0110210 | Charcot-Marie-Tooth disease X-linked recessive 5 | |
DOID:0110211 | Charcot-Marie-Tooth disease X-linked recessive 3 | |
DOID:0110212 | Charcot-Marie-Tooth disease X-linked recessive 4 | |
DOID:0111368 | cholesterol-ester transfer protein deficiency |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0000093 | Proteinuria |
HP:0000505 | Visual impairment |
HP:0001084 | Corneal arcus |
HP:0001681 | Angina pectoris |
HP:0001744 | Splenomegaly |
HP:0001878 | Hemolytic anemia |
HP:0001895 | Normochromic anemia |
HP:0002155 | Hypertriglyceridemia |
Disease ID | Disease Name |
---|---|
ORPHA:79292 |
|
OMIM:245900 |
|
OMIM:136120 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100663727 | LOXAF07392 | ||
100053753 | HORSE31070 | ||
100303723 | PIGXX27403 | ||
510960 | BOVIN10662 | ||
102189984 | CAPHI08665 | ||
100302343 | SHEEP05146 | ||
100008978 | RABIT10997 | ||
105983105 | DIPOR05012 | ||
100751451 | CRIGR12578 | ||
16816 | MGI:96755 | MOUSE57683 |
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Last updated: August 19, 2024