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Zinc finger protein PLAGL1

The PLAGL1 gene encodes a transcription factor. It shares the promotor with the HYMAI, which is maternally imprinted. Loss of imprinting results in an overexpression of the gene, and a transient neonatal diabetes mellitus ensues. Other paternal overexpression syndromes with same condition include uniparental disomy and gene duplications. This type of diabetes is also called 6q24 associated.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Methylation test
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Transient neonatal diabetes mellitus 1



Temple IK et al. (1996) Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.

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Valleley EM et al. (2007) Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.

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Varrault A et al. (2006) Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth.

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Arima T et al. (2006) The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.

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Mackay DJ et al. (2002) Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.

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Bilanges B et al. (2001) Alternative splicing of the imprinted candidate tumor suppressor gene ZAC regulates its antiproliferative and DNA binding activities.

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Kamiya M et al. (2000) The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes.

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Varrault A et al. (1998) hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer.

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Spengler D et al. (1997) Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain.

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Abdollahi A et al. (1997) Identification of a gene containing zinc-finger motifs based on lost expression in malignantly transformed rat ovarian surface epithelial cells.

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Abdollahi A et al. (1997) Identification of a zinc-finger gene at 6q25: a chromosomal region implicated in development of many solid tumors.

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Temple IK et al. (1995) An imprinted gene(s) for diabetes?

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Arima T et al. (2001) A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.

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Orphanet article

Orphanet ID 159813 external link

NCBI article

NCBI 5325 external link

OMIM.ORG article

Omim 603044 external link

Wikipedia article

Wikipedia EN (PLAGL1) external link
Update: Aug. 14, 2020
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