DGCR6: Difference between revisions

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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. This gene product shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the human laminin gamma-1 chain, which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment, migration, and tissue organization during development. This gene could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome.<ref name="entrez" />
| summary_text = [[DiGeorge syndrome]], and more widely, the [[CATCH 22 syndrome]], are associated with microdeletions in chromosomal region 22q11.2. This gene product shares [[Homology (anthropology)|homology]] with the [[Drosophila melanogaster]] gonadal protein, which participates in gonadal and [[germ cell]] development, and with the human [[laminin]] gamma-1 chain, which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment, migration, and tissue organization during development. This gene could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth [[pharyngeal pouch (embryology)|pharyngeal pouch]]es, the structures from which derive the organs affected in DiGeorge syndrome.<ref name="entrez" />
}}
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{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | vauthors=Edelmann L, Stankiewicz P, Spiteri E |title=Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. |journal=Genome Res. |volume=11 |issue= 2 |pages= 208–17 |year= 2001 |pmid= 11157784 |doi= 10.1101/gr.143101  | pmc=311013 |display-authors=etal}}
*{{cite journal  | vauthors=Edelmann L, Stankiewicz P, Spiteri E |title=Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus. |journal=Genome Res. |volume=11 |issue= 2 |pages= 208–17 |year= 2001 |pmid= 11157784 |doi=   10.1101/gr.gr-1431r| pmc=311013 |display-authors=etal}}
*{{cite journal  | vauthors=Liu H, Heath SC, Sobin C |title=Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 6 |pages= 3717–22 |year= 2002 |pmid= 11891283 |doi= 10.1073/pnas.042700699  | pmc=122590 |display-authors=etal}}
*{{cite journal  | vauthors=Liu H, Heath SC, Sobin C |title=Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 6 |pages= 3717–22 |year= 2002 |pmid= 11891283 |doi= 10.1073/pnas.042700699  | pmc=122590 |display-authors=etal}}
*{{cite journal  | author=Chakravarti A |title=A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 8 |pages= 4755–6 |year= 2002 |pmid= 11959925 |doi= 10.1073/pnas.092158299  | pmc=122660 }}
*{{cite journal  | author=Chakravarti A |title=A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 8 |pages= 4755–6 |year= 2002 |pmid= 11959925 |doi= 10.1073/pnas.092158299  | pmc=122660 }}

Latest revision as of 12:31, 9 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

Protein DGCR6 is a protein that in humans is encoded by the DGCR6 gene.[1][2]

DiGeorge syndrome, and more widely, the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. This gene product shares homology with the Drosophila melanogaster gonadal protein, which participates in gonadal and germ cell development, and with the human laminin gamma-1 chain, which upon polymerization with alpha- and beta-chains forms the laminin molecule. Laminin binds to cells through interaction with a receptor and has functions in cell attachment, migration, and tissue organization during development. This gene could be a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome.[2]

References

  1. ↑ Demczuk S, Thomas G, Aurias A (Jun 1997). "Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes". Hum Mol Genet. 5 (5): 633–8. doi:10.1093/hmg/5.5.633. PMID 8733130.
  2. ↑ 2.0 2.1 "Entrez Gene: DGCR6 DiGeorge syndrome critical region gene 6".

Further reading



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