DGCR6L

Chr 22

DiGeorge syndrome critical region gene 6 like

Also known as: DGCR6

NCBI Gene: 85359 ENSG00000128185 UniProt: Q9BY27 OMIM: 609459

The protein encoded by this gene may function in neural crest cell migration into the third and fourth pharyngeal pouches and shares homology with proteins involved in cell attachment and migration. This gene is located within the chromosome 22q11.2 region associated with DiGeorge syndrome, though specific disease associations with isolated DGCR6L mutations have not been established. The gene is highly tolerant to loss-of-function variants based on population data.

OMIM ResearchSummary from RefSeq, UniProt

This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)