Asparagine Synthetase Domain Containing Protein 1 (ASNSD1)

ASNSD1 is a 643 amino acid protein containing one Asparagine synthetase domain and a glutamine amidotransferase type-2 domain. The gene encoding ASNSD1 maps to human chromosome 2, the second largest human chromosome, which consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome.   The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alström 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.