UniProt | Protein Name |
---|---|
Q9BV79 |
|
GO Term | Evidence Code | PMID |
---|---|---|
fatty acid metabolic process | ||
fatty acid biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
mitochondrial matrix |
|
|
mitochondrion |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050835 | generalized dystonia | |
DOID:0050841 | focal hand dystonia | |
DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
DOID:0080199 | colorectal carcinoma | |
DOID:0081419 | childhood-onset dystonia with optic atrophy and basal ganglia abnormalities | |
DOID:0111756 | Leber hereditary optic neuropathy with demyelinating disease of CNS | |
DOID:10965 | spastic diplegia | |
DOID:10968 | spastic monoplegia | |
DOID:10969 | hemiplegia | |
DOID:10970 | spastic quadriplegic cerebral palsy |
HPO ID | HPO Term |
---|---|
HP:0004305 | Involuntary movements |
HP:0006688 | Paroxysmal tachycardia |
HP:0007166 | Paroxysmal dyskinesia |
HP:0007663 | Reduced visual acuity |
HP:0008314 | Decreased activity of mitochondrial complex II |
HP:0008347 | Decreased activity of mitochondrial complex IV |
HP:0011463 | Childhood onset |
HP:0011923 | Decreased activity of mitochondrial complex I |
HP:0011968 | Feeding difficulties |
HP:0012179 | Craniofacial dystonia |
Disease ID | Disease Name |
---|---|
ORPHA:508093 |
|
OMIM:620629 |
|
OMIM:617282 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
174963 | WB:WBGene00012375 | ||
176534 | WB:WBGene00012970 | ||
36540 | FB:FBgn0033883 | ||
102367609 | LATCH06926 | ||
550550 | ZFIN:ZDB-GENE-050417-399 | DANRE10765 | |
103027603 | ASTMX05764 | ||
108271049 | ICTPU14247 | ||
106605110 | SALSA30878 | ||
115176641 | SALTR43395 | ||
115554599 | GADMO04104 |
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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