ANKH

Also known as ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, ANKH inorganic pyrophosphate transport regulator, SLC62A1

Progressive ankylosis protein homolog (ANK ilosis H omolog) is a protein that in humans is encoded by the ANKH gene. ANKH is a multipass transmembrane protein that is expressed in joints and other tissues. It is involved in transport of pyrophosphate (an inhibitor of hydroxyapatite precipitation) from cells into the extracellular space. It is expressed in osteoblasts. Deficiencies of ANKH are associated with excessive calcification of bone and with metastatic calcification.

Gene data

ANKH

Name: ANKH inorganic pyrophosphate transport regulator
Type: protein-coding
Position: 14,704,800–14,871,877 (−)
Aliases: ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, SLC62A1
Ensembl: ENSG00000154122
RefSeq RNA: NM_001445798.1, NM_054027.6, XM_011514067.2, XM_017009644.3, XM_054352936.1
RefSeq protein: NP_001432727.1, NP_473368.1, XP_011512369.1, XP_016865133.1, XP_054208911.1

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].

Gene Ontology

Biological process

skeletal system development

Article

4 sections

Contents

Research
References
External links
Further reading

== Research == In a mouse model, mutation at the Ank locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human homolog is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.