Zhang et al., 2017 - ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. PLoS Genetics   13:e1006481 Full text @ PLoS Genet.
13 Genes / Markers
Marker Type Symbol Name
Gene alpl alkaline phosphatase, biomineralization associated
Gene atp6v1h ATPase H+ transporting V1 subunit H
Gene bglap bone gamma-carboxyglutamate (gla) protein
Gene col1a2 collagen, type I, alpha 2
Gene ctsk cathepsin K
Gene mmp13a matrix metallopeptidase 13a
Gene mmp13b matrix metallopeptidase 13b
Gene mmp2 matrix metallopeptidase 2
Gene mmp9 matrix metallopeptidase 9
Gene runx2a RUNX family transcription factor 2a
Gene runx2b RUNX family transcription factor 2b
Gene spock2 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2
Gene tnfrsf1b tumor necrosis factor receptor superfamily, member 1B