UniProt | Protein Name |
---|---|
P50897 |
|
GO Term | Evidence Code | PMID |
---|---|---|
neuron development |
|
|
regulation of synapse structure or activity |
|
|
adult locomotory behavior | ||
lipid catabolic process | ||
sphingolipid catabolic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
intracellular membrane-bounded organelle | ||
cytosol | ||
extracellular region | ||
synaptic vesicle |
GO Term | Evidence Code | PMID |
---|---|---|
lysophosphatidic acid binding | ||
sulfatide binding | ||
palmitoyl-(protein) hydrolase activity | ||
protein binding | ||
long-chain acyl-CoA hydrolase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110722 | neuronal ceroid lipofuscinosis 7 | |
DOID:0110723 | neuronal ceroid lipofuscinosis 8 | |
DOID:0110724 | neuronal ceroid lipofuscinosis 8 northern epilepsy variant | |
DOID:0110725 | neuronal ceroid lipofuscinosis 10 | |
DOID:0110726 | neuronal ceroid lipofuscinosis 2 | |
DOID:0110727 | neuronal ceroid lipofuscinosis 13 | |
DOID:0110728 | neuronal ceroid lipofuscinosis 5 | |
DOID:0110729 | neuronal ceroid lipofuscinosis 6A | |
DOID:0110730 | neuronal ceroid lipofuscinosis 6B | |
DOID:0110731 | neuronal ceroid lipofuscinosis 3 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000253 | Progressive microcephaly |
HP:0000483 | Astigmatism |
HP:0000529 | Progressive visual loss |
HP:0000543 | Optic disc pallor |
HP:0000545 | Myopia |
HP:0000546 | Retinal degeneration |
HP:0000550 | Undetectable electroretinogram |
HP:0000572 | Visual loss |
HP:0000580 | Pigmentary retinopathy |
Disease ID | Disease Name |
---|---|
ORPHA:168491 |
|
OMIM:256730 |
|
ORPHA:79263 |
|
ORPHA:79264 |
|
ORPHA:79262 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
113890081 | BOBOX07883 | ||
102529717 | VICPA03019 | ||
105855066 | MICMU00080 | ||
100944130 | OTOGA04276 | ||
101078772 | TAKRU05229 | ||
102003937 | CHILA13643 | ||
105707978 | AOTNA16310 | ||
110206304 | PHACI03017 | ||
101038156 | SAIBB27753 | ||
101970007 | ICTTR09053 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024