Harmonizome 3.0

upper zone of growth plate and cartilage matrix associated

This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]

Orofacial cleft 12

Orofacial cleft 13

Orofacial cleft 14

Orofacial cleft 9

Acromegaloid features, overgrowth, cleft palate, and hernia

orofacial cleft 1 candidate 1

Predicted to be located in several cellular components, including endoplasmic reticulum; microtubule cytoskeleton; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

cleft lip and palate associated transmembrane protein 1

Predicted to enable GABA receptor binding activity. Predicted to be involved in regulation of T cell differentiation in thymus. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

orofacial cleft 2

orofacial cleft 3

orofacial cleft 1

Orofacial cleft 4

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1