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Sodium channel, nonvoltage-gated 1, alpha subunit

Two alpha units, the protein product of SCNN1A, and one beta and gamma unit form the heteromultimeric sodium channel. Mutations of SCNN1A are responsible for autosomal recessive Pseudohypoaldosternism 1.

Gene Structure

SCNN1A is localized to chromosome 12 (12p13). SCNN1A consists of 13 exons and spreads over 29kb. Translation starts at exon 2.

Pathology

SCNN1A mutations leading to the disruption of the protein product also alter the function of aldosterone-sensitive sodium channel. Pseudohypoaldosteronism is the disease that results.

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 20 days
Specimen type genomic DNA

Related Diseases:

Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Bronchiectasis with or without elevated sweat chloride 2
SCNN1A

References:

1.

None (2003) Mendelian forms of human hypertension and mechanisms of disease.

external link
2.

NCBI article

NCBI 6337 external link
3.

OMIM.ORG article

Omim 600228 external link
4.

Orphanet article

Orphanet ID 118532 external link
5.

Wikipedia article

Wikipedia EN (SCNN1A) external link
Update: Aug. 14, 2020
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