UniProt | Protein Name |
---|---|
P15328 |
|
GO Term | Evidence Code | PMID |
---|---|---|
cellular response to folic acid | ||
anterior neural tube closure | ||
cardiac neural crest cell migration involved in outflow tract morphogenesis | ||
axon regeneration | ||
cell adhesion |
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 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050185 | erythema multiforme | |
DOID:0050426 | Stevens-Johnson syndrome | |
DOID:0050569 | Seckel syndrome | |
DOID:0050719 | cerebral folate receptor alpha deficiency | |
DOID:0050741 | alcohol dependence | |
DOID:0050902 | medulloblastoma | |
DOID:0060041 | autism spectrum disorder | |
DOID:0060254 | Robinow syndrome | |
DOID:0060326 | myelomeningocele | |
DOID:0060578 | Noonan syndrome 1 |
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 |
---|---|---|---|
115052942 | ECHNA06478 | ||
115053400 | ECHNA06478 | ||
105811513 | PROCO15044 | ||
109053182 | CYPCA93309 | ||
116439008 | CORMO14680 | ||
116440445 | CORMO14831 | ||
115603634 | STRHB01395 | ||
115604319 | STRHB01446 |
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Last updated: August 19, 2024