ANKH
Sign in to saveAlso 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
Molecular function
via MyGene.info
Gene · Ensembl
ANKH inorganic pyrophosphate transport regulator
- Symbol
- ANKH
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 5:14,704,800-14,871,949
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 10664
- genomic end
- 14871887
- exact match
- identifiers.org/ncbigene/56172
- genomic start
- 14704800
- cytogenetic location
- 5p15.2
via Wikidata · CC0
~1 min read
Article
4 sectionsContents
- Research
- References
- External links
- Further reading
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.
== 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.