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DGCR14
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DGCR14

The information on this page was extracted automatically from online scientific databases.

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What is the official name of the DGCR14 gene?

The official name of this gene is “DiGeorge syndrome critical region gene 14.”

DGCR14 is the gene's official symbol. The DGCR14 gene is also known by other names, listed below.

What is the normal function of the DGCR14 gene?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. [provided by RefSeq]

From UniProtThis link leads to a site outside Genetics Home Reference.:

May be involved in pre-mRNA splicing.

How are changes in the DGCR14 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the DGCR14 gene's involvement in human disease.

May play a part in the etiology of the velocardiofacial/DiGeorge syndrome (VCFS/DGS), a developmental disorder characterized by structural and functional palate anomalies, conotruncal cardiac malformations, immunodeficiency, hypocalcemia, and typical facial anomalies. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR).

Where is the DGCR14 gene located?

Cytogenetic Location: 22q11.21

Molecular Location on chromosome 22: base pairs 19,117,791 to 19,132,189

The DGCR14 gene is located on the long (q) arm of chromosome 22 at position 11.21.

The DGCR14 gene is located on the long (q) arm of chromosome 22 at position 11.21.

More precisely, the DGCR14 gene is located from base pair 19,117,791 to base pair 19,132,189 on chromosome 22.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about DGCR14?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the DGCR14 gene or gene products?

  • DGCR13
  • DGSH
  • DGS-H
  • DGSI
  • DGS-I
  • ES2
  • Es2el

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding DGCR14?

cardiac ; chromosome ; critical region ; deletion ; etiology ; familial ; gene ; immunodeficiency ; malformation ; mRNA ; nucleus ; palate ; protein ; splicing ; sporadic ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: November 20, 2009