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. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. The KIAA0182 gene product has been provisionally designated KIAA0182 pending further characterization.
Subunit:
May be a component of a SHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/SHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I.
SWISS:
Q14687
Gene ID:
23199
Database links:
Entrez Gene: 23199 Human
Entrez Gene: 382034 Mouse
Entrez Gene: 307913 Rat
Entrez Gene: 567033 Zebrafish
SwissProt: Q14687 Human
SwissProt: Q3U3C9 Mouse
SwissProt: Q1LWL6 Zebrafish
Unigene: 461647 Human
Unigene: 334856 Mouse
Unigene: 41388 Zebrafish
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