ANKH

GENE INFORMATION

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Gene name

ANKH (HGNC Symbol)

Synonyms

ANK, CCAL2, CMDJ, CPPDD, HANK

Description

ANKH inorganic pyrophosphate transport regulator (HGNC Symbol)

Entrez gene summary

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]

Chromosome

5

Cytoband

p15.2

Chromosome location (bp)

14704804 - 14871778

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000154122 (version 78.38)

Entrez gene

56172

UniProt

Q9HCJ1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9HCJ1

Antibodypedia

ANKH antibodies
 

PROTEIN VIEW

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ANKH-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ANKH-001 ENSP00000284268
ENST00000284268
Q9HCJ1
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