| Entrez Gene ID |
81545 |
| Official Gene Symbol |
FBXO38 (GeneCards) |
| Full name |
F-box protein 38 |
| Location |
5q32 |
| Other ids |
Vega : OTTHUMG00000129929
MIM : 608533
HGNC : HGNC:28844
Ensembl : ENSG00000145868
|
| Other names |
MOKA,
Fbx38,
HMN2D,
SP329
|
| Summary |
This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |