Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
| 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
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| 6. |
OMIM.ORG article Omim 607803
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| 7. |
Orphanet article Orphanet ID 311068
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| 8. |
Wikipedia article Wikipedia EN (CNNM2)
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