FBXO38

F-box only protein 38 (FBXO38) is a protein that in humans is encoded by the FBXO38 gene.

FBXO38
Identifiers
AliasesFBXO38, Fbx38, HMN2D, MOKA, SP329, F-box protein 38, FBX38
External IDsOMIM: 608533 MGI: 2444639 GeneCards: FBXO38
Gene location (Human)
Chr.Chromosome 5 (human)[1]
Band5q32Start148,383,935 bp[1]
End148,442,836 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

81545

107035

Ensembl

ENSG00000145868

ENSMUSG00000042211

UniProt

Q6PIJ6

Q8BMI0

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

Mutations in the FBXO38 gene are associated with distal spinal muscular atrophy with calf predominance.

References

  1. GRCh38: Ensembl release 89: ENSG00000145868 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000042211 - Ensembl, 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.


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