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Overview
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Gene Accession: BC032998
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Background
MANSC1 (MANSC domain-containing protein 1), also known as LOH12CR3 (Loss of heterozygosity 12 chromosomal region 3 protein), is a 414 amino acid single-pass membrane protein. Expressed throughout the body, MANSC1 contains one MANSC domain and is encoded by a gene that is located on chromosome 12. Encoding over 1,100 genes within 132 million bases, chromosome 12 makes up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12, including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Chromosome 12 is also home to a homeobox gene cluster which encodes crucial transcription factors for morphogenesis, and the natural killer complex gene cluster encoding C-type lectin proteins which mediate the NK cell response to MHC I interaction.
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