ESPNL is a 1,005 amino acid protein that contains nine ANK repeats and exists as three alternatively spliced isoforms. The gene encoding ESPNL maps to human chromosome 2q37.3 and mouse chromosome 1 D. Chromosome 2 is 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. 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 known as Alstrom 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:
Secreted.
Similarity:
Belongs to the peptidase S1 family.
Contains 1 peptidase S1 domain.
SWISS:
Q7RTY5
Gene ID:
345062
Database links:
Entrez Gene: 345062 Human
SwissProt: Q7RTY5 Human
Unigene: 651266 Human
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