Dystotelin (DYTN) is a 578 amino acid cell membrane protein that contains one ZZ-type zinc finger. The gene that encodes dystrotelin maps to human chromosome 2, which 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 ZZ-type zinc finger.
SWISS:
A2CJ06
Gene ID:
391475
Database links:
Entrez Gene: 391475 Human
SwissProt: A2CJ06 Human
Unigene: 128667 Human
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