- that in
humans is
encoded by the
CRTAP gene. The
protein encoded by this gene is
similar to the
chicken and
mouse CRTAP genes. The
encoded protein is a...
- has been
described with a
mutation in the
cartilage ****ociated
protein (
CRTAP)
located on the
short arm of
chromosome 3 (3p22.3).
Clinically these forms...
-
chromosome 17p13.3.: 170 Type VII – OI
caused by a
mutation in the gene
CRTAP on
chromosome 3p22.3;
clinically similar to OI
types II and III, depending...
-
proline residues.
Prolyl 3-hydroxylase 1, P3H1,
forms a
larger complex with
CRTAP and
cyclophilin B, CyPB, in the
endoplasimic reticulum. The
complex hydroxylates...
- A4D126 3599 CRTAC1 HGNC:14882 Q9NQ79 3600
CRTAM HGNC:24313 O95727 3601
CRTAP HGNC:2379 O75718 3602 CRTC1 HGNC:16062 Q6UUV9 3603 CRTC2 HGNC:27301 Q53ET0...
-
hyperoxidation of the ER. In the ER, PPIB
interacts with
proteins such as P3H1,
CRTAP, BiP, GRP94, PDI, and
calreticulin to form
foldase and
chaperone complexes...
- imperfecta, type II; 166210; COL1A2
Osteogenesis imperfecta, type IIB; 610854;
CRTAP Osteogenesis imperfecta, type III; 259420; COL1A2
Osteogenesis imperfecta...
