Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3145
MIM: 609806
HGNC: 4982
Ensembl: ENSG00000256269
Variants:
dbSNP: 3145
ClinVar: 3145
TCGA: ENSG00000256269
COSMIC: HMBS
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166190681 | givosiran | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38568055 | 2024 | Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. | 0 |
| 38568055 | 2024 | Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease. | 0 |
| 34523126 | 2022 | Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria. | 5 |
| 34523126 | 2022 | Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria. | 5 |
| 34089223 | 2021 | Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. | 1 |
| 34681668 | 2021 | Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria. | 4 |
| 34089223 | 2021 | Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. | 1 |
| 34681668 | 2021 | Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria. | 4 |
| 32916704 | 2020 | Brain ventricular enlargement in human and murine acute intermittent porphyria. | 4 |
| 32916704 | 2020 | Brain ventricular enlargement in human and murine acute intermittent porphyria. | 4 |
| 30385147 | 2019 | Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. | 2 |
| 30615115 | 2019 | Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. | 12 |
| 30740734 | 2019 | Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. | 13 |
| 30385147 | 2019 | Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. | 2 |
| 30615115 | 2019 | Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. | 12 |
Citation
Dessen P
HMBS (hydroxymethylbilane synthase)
Atlas Genet Cytogenet Oncol Haematol. 2016-01-01
Online version: http://atlasgeneticsoncology.org/gene/55565/hmbs-(hydroxymethylbilane-synthase)
