Symbol: Name: ID: |
ANKH ankylosis, progressive homolog (mouse) GFS:4700 |
Gene name: | ANKH |
Chromosome: | 5p15.2 |
Previous Symbols: | CCAL2, CMDJ |
Previous Names: | ankylosis, progressive (mouse) homolog, "craniometaphyseal dysplasia, Jackson type (dominant)" |
Aliases: | HANK, ANK, CPPDD |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:3045421 | Rat Genome Database ID: | RGD:619925 |
HGNC ID: | HGNC:15492 | RefSeq IDs: | NM_054027 |
Entrez Gene ID: | 56172 | Ensembl Gene ID: | ENSG00000154122 |
VEGA IDs: | OTTHUMG00000090539 | UniProt ID: | Q9HCJ1 |
UCSC ID: | uc003jfm.3 | OMIM ID: | 605145 |
Pubmed: | PMID10894769 PMID 12297989 PMID 11326338 | ||
CCDS IDs: | CCDSCCDS3885.1 |
Progressive ankylosis protein homolog 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. 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.
Products for ANKH gene
Catalog | Product Name | Application | Company |
GFS:E04700 | ankylosis, progressive homolog (mouse); ELISA kit | ELISA | n/a |
GFS:A04700 | ankylosis, progressive homolog (mouse); Anti | ANTIBODIES | n/a |
GFS:P04700 | ankylosis, progressive homolog (mouse); Protien | Protien | n/a |