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DMXL2

From Wikipedia, the free encyclopedia
DMXL2
Identifiers
AliasesDMXL2, RC3, PEPNS, Dmx like 2, DFNA71, EIEE81
External IDsOMIM: 612186; MGI: 2444630; HomoloGene: 41022; GeneCards: DMXL2; OMA:DMXL2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001174116
NM_001174117
NM_015263

NM_172771

RefSeq (protein)

NP_766359

Location (UCSC)Chr 15: 51.45 – 51.62 MbChr 9: 54.27 – 54.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dmx-like 2 is a protein that in humans is encoded by the DMXL2 gene. [5]

Function

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This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human celines.[6] A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene.

Clinical relevance

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Haplosufficiency of Dmxl2 has been identified as the cause of Polyendocrine-polyneuropathy syndrome[1], and delayed puberty. Research has indicated that this is a result of altered function of CNS synapses (in which the protein product of Dmxl2 is expressed) causing altered activation of the GnRH neurons of the hypothalamus.

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104093Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041268Ensembl, 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. ^ "Entrez Gene: Dmx-like 2".
  6. ^ Sethi N, Yan Y, Quek D, Schupbach T, Kang Y (2010). "Rabconnectin-3 is a functional regulator of mammalian Notch signaling". J. Biol. Chem. 285 (45): 34757–64. doi:10.1074/jbc.M110.158634. PMC 2966091. PMID 20810660.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.