| First Author | Sirotkin H | Year | 1997 |
| Journal | Genomics | Volume | 42 |
| Issue | 2 | Pages | 245-51 |
| PubMed ID | 9192844 | Mgi Jnum | J:41222 |
| Mgi Id | MGI:893301 | Doi | 10.1006/geno.1997.4734 |
| Citation | Sirotkin H, et al. (1997) Identification, characterization, and precise mapping of a human gene encoding a novel membrane-spanning protein from the 22q11 region deleted in velo-cardio-facial syndrome. Genomics 42(2):245-51 |
| abstractText | Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, conotruncal heart defects, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80-85% of VCFS/DGS patients. Using a cDNA selection protocol, we have identified a new gene, TMVCF (transmembrane protein deleted in VCFS), which maps to the deleted interval. The genomic locus is positioned between polymorphic markers D22S944 and D22S941. TMVCF encodes a small protein of 219 amino acids that is predicted to contain two membrane-spanning domains. TMVCF is expressed abundantly in human adult lung, heart, and skeletal muscle, and transcripts can be detected at least as early as Day 9 of mouse development. |
