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SFTPB - surfactant protein B

Synonym(s) : SP-B
Previous symbols and names : SFTP3, Surfactant, pulmonary-associated protein B
Type : gene with protein product
Chromosomal location : 2p11.2
OMIM: 178640
HGNC: 10801
UniProtKB: P07988
Genatlas: SFTPB
Ensembl: ENSG00000168878
IUPHAR-DB: -
Reactome: P07988
LOVD: SFTPB

Diseases list

Disease-causing germline mutation(s) (loss of function) in Neonatal acute respiratory distress due to SP-B deficiency ORPHA:217563
Major susceptibility factor in Infant acute respiratory distress syndrome ORPHA:70587

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Diagnostic tests (16)

Research activities on this gene

Specialised Social Services

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