Gene Symbol | FBXO38 |
Entrez Gene ID | 81545 |
Full Name | F-box protein 38 |
Synonyms | Fbx38,HMN2D,MOKA,SP329 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Neuronopathy, distal hereditary motor, type IID, 615575 (3) |