UniProt | Protein Name |
---|---|
P51648 |
|
GO Term | Evidence Code | PMID |
---|---|---|
fatty acid metabolic process | ||
peripheral nervous system development | ||
phytol metabolic process | ||
hexadecanal metabolic process | ||
central nervous system development |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
cytosol |
|
|
cytoplasm | ||
endoplasmic reticulum membrane |
|
|
peroxisomal membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
medium-chain-aldehyde dehydrogenase activity | ||
long-chain-aldehyde dehydrogenase activity | ||
protein homodimerization activity | ||
long-chain-alcohol oxidase activity | ||
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050572 | cone-rod dystrophy | |
DOID:0050576 | Senior-Loken syndrome | |
DOID:0050635 | alternating hemiplegia of childhood | |
DOID:0060216 | Cogan syndrome | |
DOID:0060249 | scoliosis | |
DOID:0060640 | ethylmalonic encephalopathy | |
DOID:0060655 | autosomal recessive congenital ichthyosis | |
DOID:0060656 | autosomal recessive congenital ichthyosis 1 | |
DOID:0060710 | autosomal recessive congenital ichthyosis 2 | |
DOID:0060711 | autosomal recessive congenital ichthyosis 3 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000483 | Astigmatism |
HP:0000488 | Retinopathy |
HP:0000545 | Myopia |
HP:0000551 | Color vision defect |
HP:0000608 | Macular degeneration |
HP:0000613 | Photophobia |
HP:0000682 | Abnormal dental enamel morphology |
HP:0000958 | Dry skin |
Disease ID | Disease Name |
---|---|
ORPHA:816 |
|
OMIM:270200 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
178680 | WB:WBGene00000111 | ||
179026 | WB:WBGene00000110 | ||
45398 | FB:FBgn0010548 | ||
100000026 | ZFIN:ZDB-GENE-120823-1 | DANRE09448 | |
323653 | ZFIN:ZDB-GENE-040718-74 | ||
447920 | ZFIN:ZDB-GENE-040912-103 | ||
103027191 | ASTMX04448 | ||
108277490 | ICTPU10533 | ||
108277491 | ICTPU10533 | ||
113569715 | ELEEL06390 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024