LYPD1 is a 141 amino acid protein that contains one UPAR/Ly6 domain. LYPD1 is a cell membrane protein expressed as three isoforms and encoded by a gene mapping to human chromosome 2. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare 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 related to mutations in the ALMS1 gene. Chromosome 2 contains a probable vestigial second centromere as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.
Subcellular Location:
Cell membrane.
Similarity:
Contains 1 UPAR/Ly6 domain.
SWISS:
Q8N2G4
Gene ID:
116372
Database links:
Entrez Gene: 116372 Human
Entrez Gene: 72585 Mouse
Entrez Gene: 72838 Rat
Omim: 610450 Human
SwissProt: Q8N2G4 Human
SwissProt: Q8BLC3 Mouse
SwissProt: Q66H42 Rat
Unigene: 432395 Human
Unigene: 741324 Human
Unigene: 490405 Mouse
Unigene: 231867 Rat
|
|
