progressive ankylosis protein homolog (ANK, ANKH, KIAA1581, UNQ241/PRO274)

Function

• regulates intra- & extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter

Structure

• belongs to the ANKH family

Compartment

membrane

Expression

• found in osteoblasts from mandibular bone & from iliac bone
• not detected in osteoclastic cells

Pathology

• defects in ANKH are the cause of chondrocalcinosis 2
• defects in ANKH are the cause of craniometaphyseal dysplasia Jackson type

More general terms

• transmembrane 8 protein

Database

• OMIM: https://mirror.omim.org/entry/118600
• OMIM: https://mirror.omim.org/entry/123000
• OMIM: https://mirror.omim.org/entry/605145
• UniProt: http://www.uniprot.org/uniprot/Q9HCJ1.html