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FAM3C

From Wikipedia, the free encyclopedia
FAM3C
Identifiers
AliasesFAM3C, ILEI, GS3786, family with sequence similarity 3 member C, FAM3 metabolism regulating signaling molecule C
External IDsOMIM: 608618; MGI: 107892; HomoloGene: 8926; GeneCards: FAM3C; OMA:FAM3C - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001040020
NM_014888

NM_138587

RefSeq (protein)

NP_001035109
NP_055703

NP_613053

Location (UCSC)Chr 7: 121.35 – 121.4 MbChr 6: 22.31 – 22.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein FAM3C is a protein that in humans is encoded by the FAM3C gene.[5][6]

Function

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This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. Alternate transcriptional splice variants which encode the same protein have been characterized.[6] FAM3C functions and expression also were studied in mammalian brains[7][8] which shown that a reduced FAM3C level associated to the onset of sporadic Alzheimer's disease (AD), which highlighted FAM3C as a promising therapeutic target for Alzheimer's disease. Moreover, level of FAM3C was claimed to be a biomarker for AD together with saposin D.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000196937Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029672Ensembl, 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. ^ Zhu Y, Xu G, Patel A, McLaughlin MM, Silverman C, Knecht K, Sweitzer S, Li X, McDonnell P, Mirabile R, Zimmerman D, Boyce R, Tierney LA, Hu E, Livi GP, Wolf B, Abdel-Meguid SS, Rose GD, Aurora R, Hensley P, Briggs M, Young PR (August 2002). "Cloning, expression, and initial characterization of a novel cytokine-like gene family". Genomics. 80 (2): 144–50. doi:10.1006/geno.2002.6816. PMID 12160727.
  6. ^ a b "Entrez Gene: FAM3C family with sequence similarity 3, member C".
  7. ^ Hasegawa H, Liu L, Tooyama I, Murayama S, Nishimura M (June 2014). "The FAM3 superfamily member ILEI ameliorates Alzheimer's disease-like pathology by destabilizing the penultimate amyloid-β precursor". Nature Communications. 5: 3917. Bibcode:2014NatCo...5.3917H. doi:10.1038/ncomms4917. PMID 24894631.
  8. ^ Liu L, Watanabe N, Akatsu H, Nishimura M (August 2016). "Neuronal expression of ILEI/FAM3C and its reduction in Alzheimer's disease". Neuroscience. 330: 236–46. doi:10.1016/j.neuroscience.2016.05.050. PMID 27256505. S2CID 24057333.
  9. ^ US 7993868, Davies, Huw Alun; Blennow, Kaj & McGuire, James Norton, "Saposin D and FAM3C are biomarkers for alzheimer's disease", published 9 Aug 2011 

Further reading

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