Unilateral Alveolar Cleft Of Maxilla

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Results for "Unilateral Alveolar Cleft Of Maxilla": 14 genes

Name
ASPSCR1 Gene alveolar soft part sarcoma chromosome region, candidate 1 The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]
OFC12 Gene Orofacial cleft* 12*
OFC13 Gene Orofacial cleft* 13*
OFC14 Gene Orofacial cleft* 14*
OFC9 Gene Orofacial cleft* 9*
AOCH Gene Acromegaloid features, overgrowth, cleft* palate, and hernia*
OFCC1 Gene orofacial cleft* 1 candidate 1* Predicted to be located in several cellular components, including endoplasmic reticulum; microtubule cytoskeleton; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
CLPTM1 Gene cleft lip and palate associated transmembrane protein 1 Predicted to enable GABA receptor binding activity. Predicted to be involved in regulation of T cell differentiation in thymus. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
OFC2 Gene orofacial cleft* 2*
OFC3 Gene orofacial cleft* 3*
OFC1 Gene orofacial cleft* 1*
OFC4 Gene Orofacial cleft* 4*
EEC2 Gene ectrodactyly, ectodermal dysplasia and cleft* lip/palate syndrome 2*
EEC1 Gene ectrodactyly, ectodermal dysplasia and cleft* lip/palate syndrome 1*