Ank progressive ankylosis [ Mus musculus (house mouse) ] - Gene - Data resources

11732

Ank progressive ankylosis [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 11732)

Symbol: Ank

Full name: progressive ankylosis

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: Ankh; D15Ertd221e; ank; mKIAA1581

Summary: Enables inorganic diphosphate transmembrane transporter activity. Acts upstream of or within regulation of bone mineralization. Located in plasma membrane. Is integral component of plasma membrane. Is expressed in several structures, including bone; connective tissue; olfactory epithelium; telencephalon; and vibrissa follicle. Used to study craniometaphyseal dysplasia. Human ortholog(s) of this gene implicated in autosomal dominant craniometaphyseal dysplasia and chondrocalcinosis. Orthologous to human ANKH (ANKH inorganic pyrophosphate transport regulator). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in heart adult (RPKM 65.4), cerebellum adult (RPKM 43.1) and 27 other tissues

Orthologs: human

Gene size: 128233bp

Exon count: 12