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:0001838 | Rocker bottom foot |
HP:0001977 | Abnormal thrombosis |
HP:0002020 | Gastroesophageal reflux |
HP:0002021 | Pyloric stenosis |
HP:0002036 | Hiatus hernia |
HP:0002094 | Dyspnea |
HP:0002098 | Respiratory distress |
HP:0002140 | Ischemic stroke |
HP:0002616 | Aortic root aneurysm |
HP:0002617 | Vascular dilatation |
Disease ID | Disease Name |
---|---|
OMIM:208050 |
|
ORPHA:3342 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
716558 | MACMU02042 | ||
105496485 | MACNE14190 | ||
101026949 | PAPAN12883 | ||
105542281 | MANLE23194 | ||
101131480 | GORGO22074 | ||
100978426 | PANPA22482 | ||
469963 | PANTR25055 | ||
100445476 | PONAB20878 | ||
485911 | CANLF09627 | ||
112931897 | VULVU27512 |
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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