| MAB21L1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MAB21L1, CAGR1, Nbla00126, mab-21 like 1, COFG | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601280 MGI: 1333773 HomoloGene: 36183 GeneCards: MAB21L1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Mab-21 like 1 is a protein that in humans is encoded by the MAB21L1 gene. [5]
Function
This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008].
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000180660 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056947 - 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.
- ↑ "Entrez Gene: Mab-21 like 1". Retrieved 2020-04-12.
Further reading
- Meira-Lima IV, Zhao J, Sham P, Pereira AC, Krieger JE, Vallada H (September 2001). "Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3". Mol. Psychiatry. 6 (5): 565–9. doi:10.1038/sj.mp.4000898. PMID 11526470.
- Kim BG, Park YJ, Libermann TA, Cho JY (August 2011). "PTH regulates myleoid ELF-1-like factor (MEF)-induced MAB-21-like-1 (MAB21L1) expression through the JNK1 pathway". J. Cell. Biochem. 112 (8): 2051–61. doi:10.1002/jcb.23124. PMID 21465527. S2CID 5230907.
- Bruel AL, Masurel-Paulet A, Rivière JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L, Thevenon J (February 2017). "Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis". Clin. Genet. 91 (2): 333–338. doi:10.1111/cge.12794. PMID 27103078.
- de Oliveira Mann CC, Kiefersauer R, Witte G, Hopfner KP (June 2016). "Structural and biochemical characterization of the cell fate determining nucleotidyltransferase fold protein MAB21L1". Sci Rep. 6: 27498. Bibcode:2016NatSR...627498D. doi:10.1038/srep27498. PMC 4897736. PMID 27271801.
- Huang ZX, Xiang JW, Zhou L, Nie Q, Wang L, Chen ZG, Hu XH, Xiao Y, Qing WJ, Liu YF, Sun Q, Tang XC, Liu FY, Luo ZW, Liu WB, Li DW (2016). "The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development". Curr. Mol. Med. 16 (7): 660–667. doi:10.2174/1566524016666160824150729. PMID 27558071.
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