MANF Chromosome 3

Mesencephalic astrocyte derived neurotrophic factor

2 variants 2 Health Risk

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What This Gene Does

The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and results in cell proliferation. Activity of this protein is important in promoting the survival of dopaminergic neurons. The presence of polymorphisms in the N-terminal arginine-rich region, including a specific mutation that changes an ATG start codon to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus no longer thought to be tumor-related. [provided by RefSeq, Apr 2014]

Associated Conditions (5)

Diabetes

deafness

developmental delay

and short stature syndrome

Cerebro-costo-mandibular syndrome

Key Variants

RS1005998005

Likely pathogenic

Diabetes, deafness, developmental delay

Health Risk

RS1559452572

Pathogenic

Diabetes, deafness, developmental delay

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS1005998005	Health Risk	Likely pathogenic	Diabetes, deafness, developmental delay
RS1559452572	Health Risk	Pathogenic	Diabetes, deafness, developmental delay