This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Function:
May act as a positive regulator of cell proliferation.
Subcellular Location:
Nucleus.
Tissue Specificity:
Widely expressed with highest levels in spinal cord, brain, heart and bone marrow. Also expressed in fetal brain and liver.
DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life.
Similarity:
Belongs to the rogdi family.
SWISS:
Q9GZN7
Gene ID:
79641
Database links:
Entrez Gene: 79641 Human
Entrez Gene: 66049 Mouse
Entrez Gene: 287061 Rat
Omim: 614574 Human
SwissProt: Q9GZN7 Human
SwissProt: Q3TDK6 Mouse
SwissProt: Q4V7D2 Rat
Unigene: 459795 Human
Unigene: 27792 Mouse
Unigene: 995 Rat
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