C1QTNF12

Chr 1

C1q and TNF related 12

Also known as: C1QDC2, CTRP12, FAM132A

NCBI Gene: 388581 ENSG00000184163 UniProt: Q5T7M4

C1QTNF12 encodes an insulin-sensitizing adipokine that regulates glucose metabolism by promoting glucose uptake in adipocytes and suppressing hepatic glucose production via the PI3K-Akt signaling pathway. Mutations cause autosomal recessive familial partial lipodystrophy type 7, characterized by loss of subcutaneous fat from the limbs and trunk with metabolic complications including insulin resistance and diabetes. The gene shows low constraint against loss-of-function variants, consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

Predicted to enable hormone activity. Predicted to be involved in negative regulation of gluconeogenesis; positive regulation of D-glucose import; and positive regulation of insulin receptor signaling pathway. Predicted to act upstream of or within negative regulation of inflammatory response; positive regulation of cell communication; and regulation of glucose metabolic process. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.64

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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