Cleft lip and palate transmembrane protein 1 (Clptm1) is a multi-transmembrane protein that in humans is encoded by the CLPTM1 gene.[4][5] 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.[6][7] A more recent study shows a role in GABAA receptor subunit intracellular anchoring and regulation resulting in an influence on synaptic strength[8] 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 genes, suggesting that CLPTM1 may belong to a new gene family.[9] This family also contains the Homo sapiens cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis.[10]
^ abcGRCm38: Ensembl release 89: ENSMUSG00000002981 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC (December 1998). "Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate". Genomics. 54 (2): 231–240. doi:10.1006/geno.1998.5577. PMID 9828125.
^"Entrez Gene: CLPTM1 cleft lip and palate associated transmembrane protein 1".
^Takeuchi T, Kuro-o M, Miyazawa H, Ohtsuki Y, Yamamoto H (July 1997). "Transgenic expression of a novel thymic epithelial cell antigen stimulates aberrant development of thymocytes". Journal of Immunology. 159 (2): 726–733. doi:10.4049/jimmunol.159.2.726. PMID 9218588.
^Takeuchi T, Tamamoto T, Tamura H, Yamamoto H (April 1995). "Characterization of a 50 kDa surface membrane protein on thymic stromal cells as an important factor for early T cell development". International Immunology. 7 (4): 583–590. doi:10.1093/intimm/7.4.583. PMID 7547685.
^Ge Y, Kang Y, Cassidy RM, Moon KM, Lewis R, Wong RO, et al. (February 2018). "Clptm1 Limits Forward Trafficking of GABAA Receptors to Scale Inhibitory Synaptic Strength". Neuron. 97 (3): 596–610.e8. doi:10.1016/j.neuron.2017.12.038. PMC 5810584. PMID 29395912.
^Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC (December 1998). "Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate". Genomics. 54 (2): 231–240. doi:10.1006/geno.1998.5577. PMID 9828125.
^Yamamoto K, Okamoto A, Isonishi S, Ochiai K, Ohtake Y (February 2001). "A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis". Biochemical and Biophysical Research Communications. 280 (4): 1148–1154. doi:10.1006/bbrc.2001.4250. PMID 11162647.
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genome-wide association study of individuals with non-syndromic cleftlip with palate (NSCLP) to identify loci that are at risk for the birth defect....
disequilibrium between GABRB3 gene and nonsyndromic familial cleftlip with or without cleftpalate". Human Genetics. 110 (1): 15–20. doi:10.1007/s00439-001-0639-5...
association with CLP26, and clinical genetic data further suggest a potential link between PDGFC gene polymorphism andcleftlipandpalate. GRCh38: Ensembl...
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andcleftlip/palate (EEC) syndrome. The transcriptome of p63 mutant keratinocytes deviated from the normal epidermal cell identity. Vitamin A and its...
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