Cleft lip and palate transmembrane protein 1 (Clptm1) is a multi-transmembrane
protein that in humans is encoded by the ''CLPTM1''
gene.
Clptm1 was characterized in 1995 as a surface membrane protein in the thymus during embryonic development in mice and is suggested to have an important role in T-cell development. A more recent study shows a role in GABAA receptor subunit intracellular anchoring and regulation resulting in an influence on synaptic strength
Clptm1 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 non-syndromic 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
''Caenorhabditis elegans'' () is a free-living transparent nematode about 1 mm in length that lives in temperate soil environments. It is the type species of its genus. The name is a blend of the Greek ''caeno-'' (recent), ''rhabditis'' (ro ...
'' 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.
References
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