NIP30 is a 254 amino acid nuclear protein encoded by a gene that maps to human chromosome 16q13. Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene.
Subcellular Location:
Nucleus.
SWISS:
Q9GZU8
Gene ID:
80011
Database links:
Entrez Gene: 80011 Human
Entrez Gene: 102122 Mouse
Entrez Gene: 307652 Rat
SwissProt: Q9GZU8 Human
SwissProt: Q91WE2 Mouse
Unigene: 396740 Human
Unigene: 250425 Mouse
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