Description
Product Characteristics:
CCDC148 (coiled-coil domain containing 148), also known as MGC125590 or MGC125588, is a 591 amino acid protein encoded by a gene mapping to human chromosome 2. The second largest human chromosome, 2 consists of 237 million bases encoding over 1,400 genes and making up approximately 8 % of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.
Subcellular location: Cytoplasm, Nucleus
Synonyms: CCDC 148, coiled coil domain containing 148, coiled-coil domain containing 148, CC148_HUMAN.
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