ANKH ANKH inorganic pyrophosphate transport regulator
Gene ID: 56172, updated on 2-Nov-2024Gene type: protein coding
Also known as: ANK; CMDJ; HANK; MANK; CCAL2; CPPDD; SLC62A1
- See all available tests in GTR for this gene
- Go to complete Gene record for ANKH
- Go to Variation Viewer for ANKH variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Chondrocalcinosis 2 | See labs |
| Craniometaphyseal dysplasia, autosomal dominant | See labs |
| Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-02-23) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 5p15.2
- Sequence:
- Chromosome: 5; NC_000005.10 (14704800..14871778, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ANKH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ANKH @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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