SFTPA1, Official Symbol SFTPA1provided by HGNC Official Full Name surfactant protein A1provided by HGNC Primary source HGNC:HGNC:10798 See related Ensembl:ENSG00000122852 MIM:178630; AllianceGenome:HGNC:10798 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SPA; ILD1; PSAP; PSPA; SP-A; SPA1; PSP-A; SFTP1; SP-A1; COLEC4; SFTPA1B; SP-A1 beta; SP-A1 delta; SP-A1 gamma; SP-A1 epsilon Summary 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] Annotation information Note: In the NCBI Build 36 reference assembly, there were four SFTPA genes on chromosome 10, with the SFTPA1/SFTPA2 gene pair being centromeric to a SFTPA1B/SFTPA2B pair. In June 2009, the Genome Reference Consortium determined that the duplicated region containing one of these gene pairs is in error, and thus, only one SFTPA1/SFTPA2 pair is present in the GRCh37 reference assembly. The HUGO Gene Nomenclature Committee (HGNC) retired the symbol SFTPA1B, because its sequence is redundant with SFTPA1. [13 Feb 2013] Expression Restricted expression toward lung (RPKM 4554.3) See more Orthologs all