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Mental Retardation, Autosomal Dominant 21

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Mental Retardation, Autosomal Dominant 21

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https://www.ncbi.nlm.nih.gov/gtr/conditions/C3809686

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- Short Stature

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- Microcephaly

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- Autistic Behaviour
- Intellectual disability

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- Generalised hypotonia

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-Cryptorchidism

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- Hypermetropia
- Strabismus

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- Feeding difficulties

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Abnormality of the Cardio Vascular System

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Abnormality of the Cardio Vascular System

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- Atrial septal defect
- Coarctation of aorta
- Patent ductus arteriosus

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- Abnormality of the dentition
- Cleft Palate
- Microcephaly
- Thin vermilion border

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CTCF is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.

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Positional proteomics analysis identifies the cleavage of human CCCTC-binding factor (zinc finger protein) (CTCF) at amino acid residues 360-361 by the HIV-1 protease

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- Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

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Primarily expressed within the lymph nodes, but also expressed in many other tissues such as spleen, bone marrow, and endometrium.

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This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

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Location - 16q22.1
Exon Count - 13