Fgd4 - FYVE, RhoGEF and PH domain containing 4 Gene
Also Known as Frabp; ZFYVE6; 9030023J02Rik; 9330209B17Rik
Species: Mus musculus
Summary
This gene is a member of the FYVE, RhoGEF and PH domain containing (FGD) family. The encoded protein is a Cdc42-specific guanine nucleotide exchange factor (GEF) that plays an essential role in regulating the actin Cytoskeleton and cell morphology. Disruption of the gene in mouse causes abnormal nerve development and dysmyelination. Mutations in a similar gene in human can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Fgd4 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001301817.1 | NP_001288746.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform 1 |
| NM_001301818.1 | NP_001288747.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform alpha |
| NM_139232.3 | NP_631978.1 | FYVE, RhoGEF and PH domain-containing protein 4 isoform alpha |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within lamellipodium assembly |
IDA
IDA: Inferred from direct assay
|
11527409 | MGI |
| acts upstream of or within microspike assembly |
IDA
IDA: Inferred from direct assay
|
11527409 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in filopodium |
IDA
IDA: Inferred from direct assay
|
11527409 | MGI |
| located in lamellipodium |
IDA
IDA: Inferred from direct assay
|
11527409 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
FYVE, RhoGEF and PH domain-containing protein 4 |
|