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. The LOC130576 gene product has been provisionally designated LOC130576 pending further characterization.
Subcellular Location:
Cell membrane; Lipid-anchor; GPI-anchor.
SWISS:
Q8NI32
Gene ID:
130576
Database links:
Entrez Gene: 130576 Human
Entrez Gene: 71897 Mouse
Entrez Gene: 362133 Rat
SwissProt: Q8NI32 Human
SwissProt: Q9D7F2 Mouse
Unigene: 357567 Human
Unigene: 41381 Mouse
Unigene: 220607 Rat
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