UniProt | Protein Name |
---|---|
O95528 |
|
GO Term | Evidence Code | PMID |
---|---|---|
dehydroascorbic acid transport | ||
glucose transmembrane transport | ||
galactose transmembrane transport |
|
|
embryonic skeletal joint development | ||
cell redox homeostasis |
GO Term | Evidence Code | PMID |
---|---|---|
carbohydrate:proton symporter activity |
|
|
symporter activity | ||
D-glucose transmembrane transporter activity | ||
dehydroascorbic acid transmembrane transporter activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0070134 | autosomal recessive cutis laxa type IIA | |
DOID:0070135 | autosomal recessive cutis laxa type IA | |
DOID:0070136 | autosomal dominant cutis laxa 2 | |
DOID:0070137 | autosomal recessive cutis laxa type IIB | |
DOID:0070138 | autosomal recessive cutis laxa type IIIB | |
DOID:0070140 | autosomal recessive cutis laxa type IIC | |
DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
DOID:0070142 | autosomal dominant cutis laxa | |
DOID:0080001 | bone disease | |
DOID:0080326 | familial hypertrophic cardiomyopathy |
HPO ID | HPO Term |
---|---|
HP:0003623 | Neonatal onset |
HP:0004209 | Clinodactyly of the 5th finger |
HP:0004415 | Pulmonary artery stenosis |
HP:0004942 | Aortic aneurysm |
HP:0004955 | Generalized arterial tortuosity |
HP:0005328 | Progeroid facial appearance |
HP:0005344 | Abnormal carotid artery morphology |
HP:0005743 | Avascular necrosis of the capital femoral epiphysis |
HP:0006543 | Cardiorespiratory arrest |
HP:0006687 | Aortic tortuosity |
Disease ID | Disease Name |
---|---|
OMIM:208050 |
|
ORPHA:3342 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
366251 | RGD:1306552 | RATNO26472 | |
100731003 | CAVPO16545 | ||
101582471 | OCTDE14086 | ||
101873451 | MELUD11811 | ||
100029696 | MONDO03248 | ||
102447112 | PELSI12135 | ||
103669697 | URSMA14531 | ||
114033299 | VOMUR11146 | ||
113902941 | BOBOX02973 | ||
100943755 | OTOGA13803 |
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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