UniProt | Protein Name |
---|---|
P15328 |
|
GO Term | Evidence Code | PMID |
---|---|---|
receptor-mediated endocytosis | ||
regulation of canonical Wnt signaling pathway | ||
sperm-egg recognition | ||
folic acid transport | ||
cardiac neural crest cell migration involved in outflow tract morphogenesis |
GO Term | Evidence Code | PMID |
---|---|---|
endosome | ||
Golgi membrane | ||
basolateral plasma membrane | ||
transport vesicle | ||
endoplasmic reticulum-Golgi intermediate compartment membrane |
GO Term | Evidence Code | PMID |
---|---|---|
folic acid binding | ||
signaling receptor activity | ||
folic acid 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 |
|
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: February 17, 2025