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:

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.

2.	NCBI article NCBI 6337

3.	OMIM.ORG article Omim 600228

4.	Orphanet article Orphanet ID 118532

5.	Wikipedia article Wikipedia EN (SCNN1A)