ACP5 acid phosphatase 5, tartrate resistant
Gene ID: 54, updated on 2-Nov-2024Gene type: protein coding
Also known as: HPAP; TRAP; TRAcP; TRACP5a; TRACP5b; TrATPase
- See all available tests in GTR for this gene
- Go to complete Gene record for ACP5
- Go to Variation Viewer for ACP5 variants
Summary
This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. GeneReviews: Not available | |
| Spondyloenchondrodysplasia with immune dysregulation | See labs |
Genomic context
- Location:
- 19p13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (11574660..11578975, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACP5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ACP5 @ 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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