SKT is a 1,943 amino acid protein that localizes to cytoplasm. The SKT protein is required for normal development of intervertebral disks. Existing as seven alternatively spliced isoforms, the SKT gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 10p12.2. Spanning nearly 135 million base pairs, chromosome 10 makes up approximately 4.5% of total DNA in cells and encodes nearly 1,200 genes. Several protein-coding genes, including those that encode for chemokines, cadherins, excision repair proteins, early growth response factors (Egrs) and fibroblast growth receptors (FGFRs), are located on chromosome 10. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.
Function:
Required for normal development of intervertebral disks.
Subcellular Location:
Cytoplasm.
SWISS:
Q5T5P2
Gene ID:
56243
Database links:
Entrez Gene: 56243 Human
SwissProt: Q5T5P2 Human
Unigene: 445885 Human
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