ANKH

ANKH
Identifiers
Aliases	ANKH, ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, ANKH inorganic pyrophosphate transport regulator, SLC62A1
External IDs	OMIM: 605145; MGI: 3045421; HomoloGene: 10664; GeneCards: ANKH; OMA:ANKH - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	14,871,778 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	27,594,995 bp
RNA expression pattern
	Top expressed in
	tibia; ; parotid gland; ; inferior ganglion of vagus nerve; ; Pons; ; right ventricle; ; Skeletal muscle tissue of biceps brachii; ; subthalamic nucleus; ; synovial joint; ; superior vestibular nucleus; ; Skeletal muscle tissue of rectus abdominis;
	Top expressed in
	seminal vesicula; ; right ventricle; ; digastric muscle; ; ankle; ; temporal muscle; ; lip; ; muscle of thigh; ; sternocleidomastoid muscle; ; triceps brachii muscle; ; deep cerebellar nuclei;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	phosphate ion transmembrane transporter activity; inorganic phosphate transmembrane transporter activity; inorganic diphosphate transmembrane transporter activity;
Cellular component	membrane; outer membrane; integral component of membrane; integral component of plasma membrane; plasma membrane;
Biological process	skeletal system development; transmembrane transport; locomotory behavior; phosphate ion transport; phosphate ion transmembrane transport; regulation of bone mineralization; inorganic diphosphate transport;
	Sources:Amigo / QuickGO
Orthologs
	56172
	11732
	ENSG00000154122
	ENSMUSG00000022265
	Q9HCJ1
	Q9JHZ2
	NM_054027
	NM_020332
	NP_473368
	NP_065065
	Wikidata
View/Edit Human	View/Edit Mouse

Progressive ankylosis protein homolog (ANK ilosis H omolog) is a protein that in humans is encoded by the ANKH gene.

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Mutation at the mouse 'progressive ankylosis' (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.