UniProt | Protein Name |
---|---|
Q15067 |
|
GO Term | Evidence Code | PMID |
---|---|---|
very long-chain fatty acid metabolic process | ||
very long-chain fatty acid beta-oxidation | ||
fatty acid oxidation | ||
generation of precursor metabolites and energy | ||
prostaglandin metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol |
|
|
membrane | ||
peroxisome | ||
peroxisomal membrane | ||
peroxisomal matrix |
|
GO Term | Evidence Code | PMID |
---|---|---|
flavin adenine dinucleotide binding | ||
protein homodimerization activity | ||
fatty acid binding | ||
acyl-CoA oxidase activity | ||
PDZ domain binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110470 | autosomal recessive nonsyndromic deafness 15 | |
DOID:0110471 | autosomal recessive nonsyndromic deafness 16 | |
DOID:0110472 | autosomal recessive nonsyndromic deafness 17 | |
DOID:0110473 | autosomal recessive nonsyndromic deafness 18A | |
DOID:0110474 | autosomal recessive nonsyndromic deafness 18B | |
DOID:0110475 | autosomal recessive nonsyndromic deafness 1A | |
DOID:0110476 | autosomal recessive nonsyndromic deafness 1B | |
DOID:0110477 | autosomal recessive nonsyndromic deafness 2 | |
DOID:0110478 | autosomal recessive nonsyndromic deafness 20 | |
DOID:0110479 | autosomal recessive nonsyndromic deafness 21 |
HPO ID | HPO Term |
---|---|
HP:0003593 | Infantile onset |
HP:0003623 | Neonatal onset |
HP:0003690 | Limb muscle weakness |
HP:0005280 | Depressed nasal bridge |
HP:0006555 | Diffuse hepatic steatosis |
HP:0006887 | Intellectual disability, progressive |
HP:0007305 | CNS demyelination |
HP:0008167 | Very long chain fatty acid accumulation |
HP:0008619 | Bilateral sensorineural hearing impairment |
HP:0008763 | No social interaction |
Disease ID | Disease Name |
---|---|
ORPHA:2971 |
|
OMIM:264470 |
|
OMIM:618960 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
173162 | WB:WBGene00008564 | ||
173163 | WB:WBGene00008565 | ||
173164 | WB:WBGene00008567 | ||
176353 | WB:WBGene00008167 | ||
181668 | WB:WBGene00010336 | ||
184167 | WB:WBGene00008566 | ||
31641 | FB:FBgn0029924 | ||
37028 | FB:FBgn0027572 | ||
37445 | FB:FBgn0034628 | ||
37446 | FB:FBgn0034629 |
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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