F-box only protein 38 (FBXO38) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''FBXO38''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...
s in the ''FBXO38'' gene are associated with
distal spinal muscular atrophy with calf predominance. FBXO38 controls the composition of centromeric chromatin via the stability of ZXDA/B nuclear factors. Mice deficient in Fbxo38 gene have defective spermatogenesis and are growth retarded.
References
External links
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Human proteins
{{gene-1-stub