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Gene: ANKH (ANKH inorganic pyrophosphate transport regulator) Homo sapiens
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Symbol: ANKH
Name: ANKH inorganic pyrophosphate transport regulator
Description: Exhibits inorganic diphosphate transmembrane transporter activity and inorganic phosphate transmembrane transporter activity. Predicted to be involved in regulation of bone mineralization. Localizes to the integral component of membrane. Implicated in chondrocalcinosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ANK; ankylosis, progressive homolog; CCAL2; CMDJ; CPPDD; craniometaphyseal dysplasia, Jackson type (dominant); FLJ27166; HANK; MANK; progressive ankylosis; progressive ankylosis protein homolog; SLC62A1
Orthologs:
Mus musculus (house mouse) : Ank (progressive ankylosis)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ankh (ANKH inorganic pyrophosphate transport regulator)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ankh (ANKH inorganic pyrophosphate transport regulator)
Pan paniscus (bonobo/pygmy chimpanzee) : ANKH (ANKH inorganic pyrophosphate transport regulator)
Canis lupus familiaris (dog) : ANKH (ANKH inorganic pyrophosphate transport regulator)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ankh (ANKH inorganic pyrophosphate transport regulator)
Sus scrofa (pig) : ANKH (ANKH inorganic pyrophosphate transport regulator)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl514,704,800 - 14,871,778 (-)Ensembl
GRCh38514,704,800 - 14,871,778 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37514,704,909 - 14,871,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36514,762,019 - 14,924,876 (-)NCBINCBI36hg18NCBI36
Build 34514,762,018 - 14,924,876NCBI
Celera514,728,867 - 14,895,594 (-)NCBI
Cytogenetic Map5p15.2NCBI
HuRef514,677,712 - 14,844,731 (-)NCBIHuRef
CHM1_1514,704,654 - 14,871,772 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
Nomenclature History
 
More on ANKH
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 734405
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.