L3HYPDH trans-L-3-hydroxyproline dehydratase
Gene ID: 112849, updated on 5-Mar-2024Gene type: protein coding
Also known as: C14orf149
- See all available tests in GTR for this gene
- Go to complete Gene record for L3HYPDH
- Go to Variation Viewer for L3HYPDH variants
Summary
The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]
Genomic context
- Location:
- 14q23.1
- Sequence:
- Chromosome: 14; NC_000014.9 (59465478..59505273, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for L3HYPDH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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