ANKH Antibody – Rabbit Polyclonal

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]

ANKH: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter. Defects in ANKH are the cause of chondrocalcinosis 2 (CCAL2). Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. Defects in ANKH are the cause of craniometaphyseal dysplasia Jackson type (CMDJ). CMDJ is a rare autosomal dominant skeletal disorder characterized by abnormal bone formation and mineralization in membranous as well as endochondral bones. Progressive thickening of the bones can cause narrowing of cranial foramina and can lead to severe visual and neurological impairment, such as facial palsy and deafness. Belongs to the ANKH family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 5p15.2

Cellular Component: integral to membrane; integral to plasma membrane; outer membrane; plasma membrane

Molecular Function: inorganic diphosphate transmembrane transporter activity; inorganic phosphate transmembrane transporter activity

Biological Process: regulation of bone mineralization; transmembrane transport

Disease: Chondrocalcinosis 2; Craniometaphyseal Dysplasia, Autosomal Dominant