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:0060321 | umbilical hernia | |
DOID:0060327 | omphalocele | |
DOID:0060731 | congenital central hypoventilation syndrome | |
DOID:0060762 | restrictive dermopathy | |
DOID:0060862 | mal de Meleda | |
DOID:0070129 | autosomal recessive cutis laxa type IID | |
DOID:0070130 | autosomal dominant cutis laxa 1 | |
DOID:0070131 | autosomal dominant cutis laxa 3 | |
DOID:0070132 | autosomal recessive cutis laxa type IIIA | |
DOID:0070133 | autosomal recessive cutis laxa type IB |
HPO ID | HPO Term |
---|---|
HP:0000776 | Congenital diaphragmatic hernia |
HP:0000822 | Hypertension |
HP:0000963 | Thin skin |
HP:0000973 | Cutis laxa |
HP:0000974 | Hyperextensible skin |
HP:0000977 | Soft skin |
HP:0000978 | Bruising susceptibility |
HP:0001027 | Soft, doughy skin |
HP:0001119 | Keratoglobus |
HP:0001166 | Arachnodactyly |
Disease ID | Disease Name |
---|---|
OMIM:208050 |
|
ORPHA:3342 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
102016323 | CHILA11826 | ||
105727486 | AOTNA07635 | ||
110206616 | PHACI00198 | ||
101040709 | SAIBB26879 | ||
101966994 | ICTTR02658 | ||
101607172 | JACJA15563 | ||
118309064 | SCOMX28233 | ||
102437193 | MYOLU06518 | ||
117016105 | RHIFE23825 | ||
103244874 | CHLSB07609 |
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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