rs112086763
This variant is located in the FBXO38 gene.
▶ClinVar annotation
Distal hereditary motor neuropathy type 2; Neuronopathy, distal hereditary motor, type 2D; not specified
View on ClinVar →About FBXO38
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]
View all FBXO38 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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