| Entrez gene ID | | 27886 |
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| Official gene symbol | | Dgcr14 |
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| Full name | | DiGeorge syndrome critical region gene 14 |
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| Aliases | | AI462402,D16H22S1269E,Dgcr1,Dgsi,ES2,Es2el |
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| Gene summary | | The human ortholog of 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 human chromosome band 22q11.2. The encoded protein localizes to the nucleus, and the orthologous protein in humans co-purifies with C complex spliceosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
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| Location | | Chromosome: 16 Locus: 16 B1-B3|16 10.45 cM |
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| Gene position | | 17911441 - 17900802 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 10640 bp |
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| Gene sequence |
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