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Details of ARFGEF2 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ARFGEF2 | ARFGEP2,BIG2 | Q9Y6D5 | BIG2_HUMAN | 10564
| ENSG00000124198
| Brefeldin A-inhibited guanine nucleotide-exchange protein 2 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Periventricular nodular heterotopia 2 (PVNH2) [MIM:608097]: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2. Note=The disease is caused by mutations affecting the gene represented in this entry. |
608097 |
