UniProt | Protein Name |
---|---|
P15328 |
|
GO Term | Evidence Code | PMID |
---|---|---|
regulation of transforming growth factor beta receptor signaling pathway | ||
pharyngeal arch artery morphogenesis | ||
receptor-mediated endocytosis |
|
|
folic acid metabolic process | ||
folic acid transport |
GO Term | Evidence Code | PMID |
---|---|---|
nucleus | ||
ER to Golgi transport vesicle membrane |
|
|
endoplasmic reticulum-Golgi intermediate compartment membrane |
|
|
endosome | ||
transport vesicle |
|
GO Term | Evidence Code | PMID |
---|---|---|
folic acid receptor activity | ||
folic acid binding | ||
signaling receptor activity | ||
protein binding |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0002180 | Neurodegeneration |
HP:0002376 | Developmental regression |
Disease ID | Disease Name |
---|---|
OMIM:613068 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
394697 | Xenbase:XB-GENE-948101 | ||
103820749 | SERCA17347 | ||
100082740 | ORNAN14896 | ||
103117474 | ERIEU01841 | ||
100411818 | CALJA04658 | ||
105578795 | CERAT17517 | ||
102132305 | MACFA09773 | ||
718388 | MACMU10177 | ||
105468697 | MACNE12944 | ||
101001135 | PAPAN06917 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024