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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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

NCBI article

NCBI 54805 external link
6.

OMIM.ORG article

Omim 607803 external link
7.

Orphanet article

Orphanet ID 311068 external link
8.

Wikipedia article

Wikipedia EN (CNNM2) external link
Update: Aug. 14, 2020
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