Primary Identifier | MGI:1891221 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 56693 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to contribute to collagen binding activity. Involved in spermatogenesis. Acts upstream of or within peptidyl-proline hydroxylation to 3-hydroxy-L-proline. Located in endoplasmic reticulum. Is expressed in several structures, including dermis; genitourinary system; heart; rib; and stomach. Used to study osteogenesis imperfecta type 7. Human ortholog(s) of this gene implicated in osteogenesis imperfecta type 7. Orthologous to human CRTAP (cartilage associated protein). PHENOTYPE: Homozygotes develop kyphoscoliosis and osteoporosis as a result of defects in bone formation. [provided by MGI curators] |