Aliases CLPTM1 Human Mouse Ensembl ENSG00000104853 | Species Human Entrez 1209 | |
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External IDs MGI: 1927155 HomoloGene: 37464 GeneCards: CLPTM1 | ||
Cleft lip and palate transmembrane protein 1 is a protein that in humans is encoded by the CLPTM1 gene. It belongs to a family of several eukaryotic cleft lip and palate transmembrane protein 1 sequences.
Cleft lip with or without cleft palate is a common birth defect that is genetically complex. The nonsyndromic forms have been studied genetically using linkage and candidate-gene association studies with only partial success in defining the loci responsible for orofacial clefting. CLPTM1 encodes a transmembrane protein and has strong homology to two Caenorhabditis elegans genes, suggesting that CLPTM1 may belong to a new gene family. This family also contains the Homo sapiens cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis.