| FBXO38 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | FBXO38, Fbx38, HMN2D, MOKA, SP329, F-box protein 38, FBX38 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608533 MGI: 2444639 GeneCards: FBXO38 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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F-box only protein 38 (FBXO38) is a protein that in humans is encoded by the FBXO38 gene.
Mutations 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.[5] Mice deficient in Fbxo38 gene have defective spermatogenesis and are growth retarded.[6]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000145868 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042211 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Dibus N, Korinek V, Cermak L (23 June 2022). "FBXO38 Ubiquitin Ligase Controls Centromere Integrity via ZXDA/B Stability". Frontiers in Cell and Developmental Biology. 10: 929288. doi:10.3389/fcell.2022.929288. PMC 9260856. PMID 35813202.
- ↑ Dibus N, Zobalova E, Monleon MA, Korinek V, Filipp D, Petrusova J, et al. (13 June 2022). "FBXO38 Ubiquitin Ligase Controls Sertoli Cell Maturation". Frontiers in Cell and Developmental Biology. 10: 914053. doi:10.3389/fcell.2022.914053. PMC 9234700. PMID 35769260.
External links
- FBXO38 human gene location in the UCSC Genome Browser.
- FBXO38 human gene details in the UCSC Genome Browser.
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