DACH2 Chromosome X

Dachshund family transcription factor 2
1 variant 1 Health Risk

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What This Gene Does
This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS151230279 Health Risk Conflicting classifications of pathogenicity
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