background:
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]
Function:
GLIS3 is a member of the GLI similar zinc finger protein family, and encodes a nuclear protein with five C2H2 type zinc finger domains. It functions as both an activator and repressor of transcription, and is specifically involved in the development of pancreatic beta cells, thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full length nature of only two have been determined.
Subcellular Location:
Nuclear
Tissue Specificity:
In the adult, expressed at high levels in the kidney and at lower levels in the brain, skeletal muscle, pancreas, liver, lung, thymus and ovary.
DISEASE:
Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH) [MIM:610199]: A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the GLI C2H2-type zinc-finger protein family.
Contains 5 C2H2-type zinc fingers.
Database links:
Entrez Gene: 169792 Human
Omim: 610192 Human
SwissProt: Q8NEA6 Human
SwissProt: Q6XP49 Mouse
Unigene: 162125 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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