Entity Details
Primary name |
FLVCR2 |
Entity type |
gene |
Source |
Source Link |
Details
PrimaryID | 55640 |
RefseqGene | NG_027694 |
Symbol | FLVCR2 |
Name | FLVCR heme transporter 2 |
Chromosome | 14 |
Location | 14q24.3 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 2000-07-03 |
ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
225790 | OMIM | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) | A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
3 interactions