基因名:
CLPTM1
产品别名:
CLPTM1; CLPTM1 regulator of GABA type A receptor forward trafficking; CLPTM1 regulator of GABA type A receptor forward trafficking; cleft lip and palate transmembrane protein 1; CLPTM1, transmembrane protein; cleft lip and palate associated transmembrane protein 1; 唇裂和腭裂相关跨膜蛋白1;
背景信息:
Clefts of the oral-facial region usually occur in early fetal development and can affect the lip, the soft palate (the soft tissue in the back of the mouth) and the hard palate (the roof of the mouth). Cleft lip (with or without cleft palate) is a genetically complex birth defect that occurs in approximately one in every 750-1,000 live births. This is one of the most common birth defects and is multifactorial, with both genetic and environmental causes. Cleft lip- and palate-associated transmembrane protein 1 (CLPTM1) belongs to a family of cleft lip and palate transmembrane proteins. This family also contains cisplatin resistance-related protein (CRR9), which is involved in CDDP-induced apoptosis. The CLPTM1 protein shows strong homology to two Caenorhabditis elegans genes.