Lipoxygenase homology PLAT domains 1 (LOXHD1) Associated conditions: 1. Stickler syndrome
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_001145472.3 | NP_001138944.1 | NC_000018.10 | (46476960..46657219, complement) | Reference GRCh38.p14 Primary Assembly | Q8IVV2 |
| 2 | REVIEWED | NM_001145473.3 | NP_001138945.1 | NC_000018.10 | (46476960..46657219, complement) | Reference GRCh38.p14 Primary Assembly | Q8IVV2 |
| 3 | REVIEWED | NM_001173129.2 | NP_001166600.1 | NC_000018.10 | (46476960..46657219, complement) | Reference GRCh38.p14 Primary Assembly | Q8IVV2 |
| 4 | REVIEWED | NM_001308013.2 | NP_001294942.1 | NC_000018.10 | (46476960..46657219, complement) | Reference GRCh38.p14 Primary Assembly | Q8IVV2 |
| 5 | REVIEWED | NM_001384474.1 | NP_001371403.1 | NC_000018.10 | (46476960..46657219, complement) | Reference GRCh38.p14 Primary Assembly | Q8IVV2 |
| 6 | REVIEWED | NM_144612.7 | NP_653213.6 | NC_000018.10 | (46476960..46657219, complement) | Reference GRCh38.p14 Primary Assembly | Q8IVV2 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Lipoxygenase homology PLAT domains 1 (LOXHD1) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Lipoxygenase homology PLAT domains 1 (LOXHD1)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | involved_in | sensory perception of sound | Process | - |
| 2 | Homo sapiens | IEA | involved_in | sensory perception of sound | Process | - |
| 3 | Homo sapiens | IMP | involved_in | sensory perception of sound | Process | 19732867 |
| 4 | Homo sapiens | IBA | is_active_in | stereocilium | Component | - |
| 5 | Homo sapiens | IEA | located_in | stereocilium | Component | - |
| 6 | Homo sapiens | ISS | located_in | stereocilium | Component | - |