Recombinant Human Progressive ankylosis protein homolog (ANKH), Truncated

Uniprot Id

Q9HCJ1

Target Species

Human

Target Name

ANKH

Target Full Name

Mineralization regulator ANKH

Target Function

Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.

Target Involvement

Chondrocalcinosis 2 (CCAL2); Craniometaphyseal dysplasia, autosomal dominant (CMDD)

Target Subcellular Location

Membrane; Multi-pass membrane protein.

Target Protein Families

ANKH family

Target Tissue Specificity

Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells.

Target Synonyms

ANK; ANKH; ANKH_HUMAN; Ankylosis progressive homolog (mouse); Ankylosis progressive homolog; CCAL 2; CCAL2; CMDJ; CPPDD; Craniometaphyseal dysplasia Jackson type (dominant); FLJ27166; HANK; MANK; Progressive ankylosis protein homolog

Target Background

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.