SFTPA1 (surfactant protein A1) — Gene

What This Gene Does

This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Gene Info

Gene Group

"Collectins|C-type lectin domain containing"

Locus Type

gene with protein product

Location

10q22.3

Ensembl

ENSG00000122852

Associated Conditions (2)

Interstitial lung disease 1

SFTPA1-related disorder

Key Variants

RS373120373

Conflicting classifications of pathogenicity

Interstitial lung disease 1, SFTPA1-related disorder, Interstitial lung disease 1

Health Risk

RS1215316727

Pathogenic

Interstitial lung disease 1, Interstitial lung disease 1

Health Risk

RS2132139965

Pathogenic

Interstitial lung disease 1, Interstitial lung disease 1

Health Risk

RS2132140058

Pathogenic

Interstitial lung disease 1, Interstitial lung disease 1

Health Risk

RS2132140607

Pathogenic

Interstitial lung disease 1, Interstitial lung disease 1

Health Risk

All Variants (5)

RSID	Category	Clinical Significance	Conditions
RS373120373	Health Risk	Conflicting classifications of pathogenicity	Interstitial lung disease 1, SFTPA1-related disorder, Interstitial lung disease 1
RS1215316727	Health Risk	Pathogenic	Interstitial lung disease 1, Interstitial lung disease 1
RS2132139965	Health Risk	Pathogenic	Interstitial lung disease 1, Interstitial lung disease 1
RS2132140058	Health Risk	Pathogenic	Interstitial lung disease 1, Interstitial lung disease 1
RS2132140607	Health Risk	Pathogenic	Interstitial lung disease 1, Interstitial lung disease 1

SFTPA1 Chromosome 10