FBXO38 gene

F-box protein 38

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. May coactivate KLF7, but does not seem to promote KLF7 ubiquitination.

From NCBI Gene:

  • Distal hereditary motor neuronopathy 2D

From UniProt:

Neuronopathy, distal hereditary motor, 2D (HMN2D): A disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal. [MIM:615575]

Cytogenetic Location: 5q32, which is the long (q) arm of chromosome 5 at position 32

Molecular Location: base pairs 148,383,935 to 148,442,836 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q32, which is the long (q) arm of chromosome 5 at position 32
  • Fbx38
  • HMN2D
  • MOKA
  • SP329