MDFIC Chromosome 7
MyoD family inhibitor domain containing
Upload your DNA to see your personal genotypes for variants in MDFIC.
What This Gene Does
This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Associated Conditions (2)
Lymphatic malformation 12
MDFIC-related disorder
Key Variants
RS2116156361
Likely pathogenic
Health Risk
RS2115961148
Pathogenic
Lymphatic malformation 12, Lymphatic malformation 12
Health Risk
RS562142736
Pathogenic
Lymphatic malformation 12, MDFIC-related disorder, Lymphatic malformation 12
Health Risk
RS753720421
Pathogenic
Lymphatic malformation 12, Lymphatic malformation 12
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2116156361 | Health Risk | Likely pathogenic | — |
| RS2115961148 | Health Risk | Pathogenic | Lymphatic malformation 12, Lymphatic malformation 12 |
| RS562142736 | Health Risk | Pathogenic | Lymphatic malformation 12, MDFIC-related disorder, Lymphatic malformation 12 |
| RS753720421 | Health Risk | Pathogenic | Lymphatic malformation 12, Lymphatic malformation 12 |