UniProt | Protein Name |
---|---|
Q8WVX9 |
|
GO Term | Evidence Code | PMID |
---|---|---|
wax biosynthetic process | ||
long-chain fatty-acyl-CoA metabolic process | ||
ether lipid biosynthetic process | ||
glycerophospholipid biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
peroxisome | ||
peroxisomal membrane |
GO Term | Evidence Code | PMID |
---|---|---|
alcohol-forming long-chain fatty acyl-CoA reductase activity | ||
oxidoreductase activity |
|
|
alcohol-forming very long-chain fatty acyl-CoA reductase activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050886 | Troyer syndrome | |
DOID:0060245 | Mast syndrome | |
DOID:0060246 | MASA syndrome | |
DOID:0060491 | SPOAN syndrome | |
DOID:0080067 | Charcot-Marie-Tooth disease type 5 | |
DOID:0081243 | rhizomelic chondrodysplasia punctate type 4 | |
DOID:0110763 | hereditary spastic paraplegia 10 | |
DOID:0110764 | hereditary spastic paraplegia 11 | |
DOID:0110765 | hereditary spastic paraplegia 12 | |
DOID:0110766 | hereditary spastic paraplegia 13 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000012 | Urinary urgency |
HP:0000020 | Urinary incontinence |
HP:0000219 | Thin upper lip vermilion |
HP:0000252 | Microcephaly |
HP:0000253 | Progressive microcephaly |
HP:0000256 | Macrocephaly |
HP:0000280 | Coarse facial features |
HP:0000316 | Hypertelorism |
Disease ID | Disease Name |
---|---|
OMIM:619338 |
|
ORPHA:438178 |
|
ORPHA:447753 |
|
OMIM:616154 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
180582 | WB:WBGene00022200 | ||
36860 | FB:FBgn0034145 | ||
103175059 | CALMI06170 | ||
102362609 | LATCH07650 | ||
406829 | ZFIN:ZDB-GENE-040426-2908 | DANRE27096 | |
103023170 | ASTMX01085 | ||
108269172 | ICTPU34401 | ||
113582491 | ELEEL30315 | ||
106561480 | SALSA11023 | ||
115152262 | SALTR114937 |
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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