UniProt | Protein Name |
---|---|
O75907 |
|
GO Term | Evidence Code | PMID |
---|---|---|
long-chain fatty-acyl-CoA metabolic process | ||
diacylglycerol metabolic process | ||
lipid storage | ||
retinol metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
plasma membrane |
|
|
membrane | ||
specific granule membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
identical protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050700 | cardiomyopathy | |
DOID:0050729 | Chanarin-Dorfman syndrome | |
DOID:0060357 | chylomicron retention disease | |
DOID:0060656 | autosomal recessive congenital ichthyosis 1 | |
DOID:0060775 | microvillus inclusion disease | |
DOID:0060776 | congenital diarrhea 5 with tufting enteropathy | |
DOID:0060777 | congenital secretory sodium diarrhea 8 | |
DOID:0060778 | congenital diarrhea 7 with exudative enteropathy | |
DOID:0060779 | congenital malabsorptive diarrhea 4 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001508 | Failure to thrive |
HP:0002013 | Vomiting |
HP:0002014 | Diarrhea |
HP:0002243 | Protein-losing enteropathy |
HP:0003073 | Hypoalbuminemia |
HP:0003077 | Hyperlipidemia |
HP:0003124 | Hypercholesterolemia |
HP:0003623 | Neonatal onset |
HP:0011473 | Villous atrophy |
Disease ID | Disease Name |
---|---|
OMIM:615863 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100691083 | ORENI40285 | ||
115578741 | SPAAU23344 | ||
100381012 | Xenbase:XB-GENE-5761538 | ||
101730812 | Xenbase:XB-GENE-5761534 | ||
113451642 | PSETE25711 | ||
100402659 | CALJA13458 | ||
105581243 | CERAT34299 | ||
102121566 | MACFA41792 | ||
701489 | MACMU44571 | ||
105488495 | MACNE39132 |
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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