Table 2.
Genes Involved in Chromosome 6p24.3 Deletion in BOFS Family 1
| Gene Symbol | Gene Name | Gene Function | Expression |
|---|---|---|---|
| BMP6 | bone morphogenetic protein 6 preproprotein | Induces cartilage and bone formation | Multiple tissues |
| CAGE1 | cancer antigen1 | Unknown | Connective tissue; Prostate; Testis |
| DSP | desmoplankin | Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma-membrane domains and in the anchoring of intermediate filaments to the desmosomes | Ubiquitous |
| EEF1E1 | eukaryotic translation elongation factor 1 | Positive modulator of ATM response to DNA damage | Ubiquitous |
| OFCC1 | orofacial cleft 1 candidate 1 | Unknown | Testis |
| RIOK1 | RIO Kinase1 | Unknown | Ubiquitous |
| SLC35B3 | solute carrier family 35, member B3 | Probable sugar transporter (by similarity) | Ubiquitous |
| TFAP2A | transcription factor AP-2 alpha | See text | See text |
| TXNDC5 | thioredoxin domain containing 5 | Possesses thioredoxin activity reducing insulin disulfide bonds | Ubiquitous |