C2orf50 (chromosome 2 open reading frame 50), also known as FLJ25143 or MGC149401, is a 162 amino acid protein that is encoded by a gene located on human chromosome 2p25.1. The second largest human chromosome, chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes 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鰉 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.
SWISS:
Q96LR7
Gene ID:
130813
Database links:
Entrez Gene: 130813 Human
SwissProt: Q96LR7 Human
Unigene: 406894 Human
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