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FBXO38

From Wikipedia, the free encyclopedia
FBXO38
Identifiers
AliasesFBXO38, Fbx38, HMN2D, MOKA, SP329, F-box protein 38, FBX38
External IDsOMIM: 608533; MGI: 2444639; GeneCards: FBXO38; OMA:FBXO38 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001271723
NM_030793
NM_205836

NM_134136
NM_001361088
NM_001361089
NM_001361090
NM_001361091

RefSeq (protein)

NP_001258652
NP_110420
NP_995308

NP_598897
NP_001348017
NP_001348018
NP_001348019
NP_001348020

Location (UCSC)Chr 5: 148.38 – 148.44 MbChr 18: 62.5 – 62.55 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000145868Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042211Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
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