- in the lung,
called alveoli, can more
easily inflate. SP-B is
encoded by
SFTPB, a single, 11425
nucleotide long gene on
chromosome 2.
Mutations in this...
-
different mutations along the
length of
SFTPB gene have been
accounted for in
surfactant metabolism dysfunction.
SFTPB mutations are
inherited in autosomal...
-
Testing is
available for
Surfactant protein B
deficiency (mutations in
SFTPB)
Surfactant protein C
deficiency (mutations in SFTPC) ABCA3
deficiency (mutations...
- lung
specific proteins are
different surfactant proteins, such as SFTPA1,
SFTPB and SFTPC, and napsin,
expressed in type II pneumocytes.
Other proteins...
-
SFTPB,
share the
architecture and the
cleaving mechanism in
whole or in part.
While Prosaposin and PSAPL1 act in
lysosomal lipid degradation,
SFTPB is...
- Q6UW10 14653 SFTPA1 HGNC:10798 Q8IWL2 14654 SFTPA2 HGNC:10799 Q8IWL1 14655
SFTPB HGNC:10801 P07988 14656
SFTPC HGNC:10802 P11686 14657
SFTPD HGNC:10803 P35247...
- stenosis; 185500; ELN
Surfactant metabolism dysfunction, pulmonary, 1; 265120;
SFTPB Surfactant metabolism dysfunction, pulmonary, 2; 610913;
SFTPC Surfactant...
