CLPTM1

Description

The CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking) is a protein-coding gene located on chromosome 19.

CLPTM1 (Cleft lip and palate transmembrane protein 1) is a multi-transmembrane protein encoded by the CLPTM1 gene. It was initially identified as a surface membrane protein in the thymus during embryonic development in mice and is thought to play a role in T-cell development. More recent studies have revealed its involvement in GABAA receptor subunit intracellular anchoring and regulation, influencing synaptic strength. CLPTM1 belongs to a family of eukaryotic cleft lip and palate transmembrane protein 1 sequences. Cleft lip with or without cleft palate is a common birth defect with a complex genetic basis. CLPTM1 encodes a transmembrane protein with strong homology to two Caenorhabditis elegans genes, suggesting it belongs to a new gene family. This family also includes the Homo sapiens cisplatin resistance related protein CRR9p, associated with CDDP-induced apoptosis.

CLPTM1 is involved in GABAergic neurotransmission but not glutamatergic transmission. It binds and traps GABAA receptors in the endoplasmic reticulum (ER), reducing their plasma membrane expression and modulating postsynaptic GABAergic (inhibitory) transmission. Altered GABAergic signaling has been implicated in cleft palate development. CLPTM1 might also function as a lipid scramblase, translocating lipids across membranes. It is required for efficient glycosylphosphatidylinositol (GPI) inositol deacylation in the ER, a crucial step for switching GPI-anchored proteins from folding to transport states. CLPTM1 may also play a role in T-cell development.

CLPTM1 is also known as -.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing