ANKH (Entrez ID: 56172)

Entrez Gene ID	56172
Official Gene Symbol	ANKH (GeneCards)
Full name	ANKH inorganic pyrophosphate transport regulator
Location	5p15.2
Other ids	Vega : OTTHUMG00000090539 MIM : 605145 HGNC : HGNC:15492 Ensembl : ENSG00000154122
Other names	ANK, CMDJ, HANK, MANK, CCAL2, CPPDD, SLC62A1
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]

Variants

Found 8 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
68	56172	ANKH	5	14716831	14716833	Autosomal dominant craniometaphyseal dysplasia	TAcloning
69	56172	ANKH	5	14716831	14716833	Autosomal dominant craniometaphyseal dysplasia	TAcloning
70	56172	ANKH	5	14716831	14716833	Autosomal dominant craniometaphyseal dysplasia	TAcloning
7841	56172	ANKH	5	14809810	14809810	Asymptomatic	TAcloning HiSeq X Ten
8152	56172	ANKH	5	15027722	15027722	Asymptomatic	TAcloning HiSeq X Ten
8516	56172	ANKH	5	14969796	14969796	Asymptomatic	TAcloning HiSeq X Ten
8830	56172	ANKH	5	14950195	14950195	Xeroderma Pigmentosum	TAcloning HiSeq X Ten
23015	56172	ANKH	5	14747848	14747848	Asymptomatic	TAcloning HiSeq X Ten Single cell Sequencing Cell cloning