Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cyclin M2

The protein encoded by the CNNM2 gene has structural similarity to the cyclins. It is involved in renal distal tubular magnesium handling. Loss of function mutations cause autosomal dominant hypomagnesemia type 6.

Genetests:

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 Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Renal hypomagnesemia 6
CNNM2

References:

1.

Stuiver M et al. (2011) CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.

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2.

Wang CY et al. (2003) Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP).

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3.

Wang CY et al. (2004) Molecular cloning and characterization of the mouse Acdp gene family.

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4.

Goytain A et al. (2005) Functional characterization of ACDP2 (ancient conserved domain protein), a divalent metal transporter.

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5.

NCBI article

NCBI 54805 [^]
6.

OMIM.ORG article

Omim 607803 [^]
7.

Orphanet article

Orphanet ID 311068 [^]
8.

Wikipedia article

Wikipedia EN (CNNM2) [^]
Update: April 29, 2019