PLAGL1
Function
Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide.
Involvement in disease
Diabetes mellitus, transient neonatal, 1
TNDM1
An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes.
None
The gene represented in this entry is involved in disease pathogenesis. Imprinted expression of PLAGL1 is relaxed in patients with transient neonatal diabetes (TND) (PubMed:11935319). Aberrant hypomethylation of the TND differentially methylated region within the PLAGL1 promoter as well as other imprinted loci at chromosome 6q24 is caused by ZFP57 mutations (PubMed:18622393).
Sequence Similarities
Belongs to the krueppel C2H2-type zinc-finger protein family.
Cellular localization
- Nucleus
Alternative names
LOT1, ZAC, PLAGL1, Zinc finger protein PLAGL1, Lost on transformation 1, Pleiomorphic adenoma-like protein 1, Tumor suppressor ZAC, LOT-1