Cleft Lip And Palate Associated Transmembrane Protein 1 (CLPTM1)

Yoshiura et al. (1998) identified a family in which cleft lip and palate segregated in 2 of 3 generations with a balanced chromosomal translocation t(2;19)(q11.2;q13.3). They identified a novel gene on chromosome 19, which they named 'cleft lip- and palate-associated transmembrane protein-1' (CLPTM1), by positional cloning. Assembled cDNA sequences and comparison with genomic sequences predicted a gene with 13 exons encoding a putative protein with 7 transmembrane domains highly conserved between human and C. elegans.

Yoshiura et al. (1998) found ubiquitous expression of a 2.6-kb transcript using Northern blot analysis of various adult human tissues and whole-mount in situ hybridization to day 10-12 postconception mouse embryos.