NP_473368.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
54,241 Da
NCBI Official Full Name
progressive ankylosis protein homolog
NCBI Official Synonym Full Names
ANKH inorganic pyrophosphate transport regulator
NCBI Official Synonym Symbols
ANK; CMDJ; HANK; MANK; CCAL2; CPPDD [Similar Products]
NCBI Protein Information
progressive ankylosis protein homolog; ankylosis, progressive homolog
UniProt Protein Name
Progressive ankylosis protein homolog
UniProt Synonym Gene Names
UniProt Entry Name
ANKH_HUMAN
NCBI Summary for ANKH
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]
UniProt Comments for ANKH
ANKH: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter. Defects in ANKH are the cause of chondrocalcinosis 2 (CCAL2). Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant. Defects in ANKH are the cause of craniometaphyseal dysplasia Jackson type (CMDJ). CMDJ is a rare autosomal dominant skeletal disorder characterized by abnormal bone formation and mineralization in membranous as well as endochondral bones. Progressive thickening of the bones can cause narrowing of cranial foramina and can lead to severe visual and neurological impairment, such as facial palsy and deafness. Belongs to the ANKH family.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter
Chromosomal Location of Human Ortholog: 5p15.1
Cellular Component: integral to plasma membrane; outer membrane; integral to membrane; plasma membrane
Molecular Function: phosphate transmembrane transporter activity; inorganic diphosphate transmembrane transporter activity; inorganic phosphate transmembrane transporter activity
Biological Process: locomotory behavior; regulation of bone mineralization; skeletal development; inorganic diphosphate transport
Disease: Craniometaphyseal Dysplasia, Autosomal Dominant; Chondrocalcinosis 2
Research Articles on ANKH
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Diseases associated with ANKH elisa kit
Organs/Tissues associated with ANKH elisa kit
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