HID1
Function
May play an important role in the development of cancers in a broad range of tissues.
Involvement in disease
Developmental and epileptic encephalopathy 105 with hypopituitarism
DEE105
A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE105 is an autosomal recessive form characterized by onset of seizures in the first weeks or months of life. Affected individuals have hypopituitarism in association with profoundly impaired development with almost no acquisition of skills, brain atrophy, thin corpus callosum, and small pituitary gland.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the hid-1 family.
Tissue Specificity
Expressed in heart, skeletal muscle, colon, spleen, kidney, liver, small intestine and lung. Highest expression is seen in brain and placenta. Loss of expression is seen in some breast, cervical, hepatocellular, lung, thyroid, gastric and renal cell-cancer lines. Highly expressed in secretory cell lines. Expressed in almost all regions of the brain, in cerebellum, anterior frontal cortex, and striatum.
Cellular localization
- Cytoplasm
- Golgi apparatus membrane
- Lipid-anchor
- Shuttles between the cytosol and the Golgi apparatus.
Alternative names
C17orf28, DMC1, HID1, Protein HID1, Down-regulated in multiple cancers 1, HID1 domain-containing protein, Protein hid-1 homolog