Ask about this productRelated genes to: HMBS antibody
- Gene:
- HMBS NIH gene
- Name:
- hydroxymethylbilane synthase
- Previous symbol:
- PBGD, UPS, PORC
- Synonyms:
- -
- Chromosome:
- 11q23.3
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: HMBS antibody
Related articles to: HMBS antibody
- Human milk banks (HMBs) are increasingly common around the world to provide a vital source of nutrition for babies who do not have the chance to receive human milk. However, religious beliefs are an important consideration in the acceptance of HMBs. - Source: PubMed
Publication date: 2026/05/13
Özcanarslan NeslihanAteseyan YaseminGüngörmüs Zeynep - The heme synthesis pathway consists of eight enzyme-catalyzed steps, and pathogenic variants in the genes encoding these enzymes cause porphyrias. Diagnosis of certain porphyrias is often significantly delayed, due to their episodic and nonspecific symptoms that mimic more common conditions. To improve genetic diagnostics, which are increasingly used as a first-line approach, the ClinGen General Inborn Errors of Metabolism Gene Curation Expert Panel identified the need to perform gene-disease curations for all genes in this pathway. During this process, we found that several genes (HMBS, UROD, CPOX, and PPOX) had multiple disease assertions, primarily differentiated by dominant versus recessive inheritance. For example, deficiency of HMBS is associated with both autosomal dominant acute intermittent porphyria (AIP) and autosomal recessive homozygous dominant AIP (HD-AIP). Yet, both conditions result from loss-of-function of the HMBS protein, and some recessive cases share identical causative variants with dominant cases. Therefore, our expert panel decided to include patients from both disease assertions (AIP and HD-AIP) as part of a single gene-disease curation rather than separating these groups of patients. This approach correctly links the variable affecting severity to allele dosage. This "lumping" process also required novel parent terms that encompass all disease subtypes and have gene-based nomenclature. Parent terms incorporating both monoallelic and biallelic subtypes were assigned a semidominant inheritance pattern, reflecting the overlapping variants and variable phenotypic severity based on residual enzyme activity. These gene-disease curations for the heme synthesis pathway pave the way for improved downstream variant curation which is a critical requirement to improve porphyria diagnostics. A key focus of this undertaking is to clarify and advance more appropriate nomenclature for these gene-disease relationships, enabling molecular laboratories to report variants in the heme synthesis pathway with greater precision. - Source: PubMed
Publication date: 2026/04/30
Reeves Emily BrownHankey WilliamClair Pepper StGoldstein Jennifer LWilke Matheus Vernet Machado BressanFeigenbaum AnnetteHung ChristinaSpector ElaineCraigen William J - Accurate normalization using stable reference genes (RGs) is essential for RT-qPCR, particularly in single bovine blastocysts with limited RNA. To date, RG validation under vitrification and warming conditions remains limited. This study compared fresh control and vitrified-warmed in vitro produced bovine blastocysts to identify appropriate RGs for normalizing target gene expression in vitrification-related studies of bovine embryos. In the treatment group, embryos were vitrified at the morula stage, warmed, and cultured to the blastocyst before analysis, and blastocysts from both groups were analyzed at the single-embryo level. Cycle threshold values of candidate RGs (ACTB, GAPDH, H2A, HMBS, PPIA, SDHA, YWHAZ, and 18S) were analyzed for stability ranking using the comparative ΔCt method, geNorm, BestKeeper, and NormFinder, followed by comprehensive analysis with RefFinder. ACTB emerged as the most stable RG across both groups, whereas H2A exhibited the lowest stability. To validate the identified RGs, apoptosis-related genes (FOXO3a, BAX, and CASP3) were normalized using ACTB, H2A, and the traditionally used RG (GAPDH). When normalized with ACTB, CASP3 expression, a marker of the downstream apoptotic pathway, was significantly higher in the vitrified-warmed group than the control group, consistent with the increased proportion of TUNEL-positive apoptotic bodies observed in vitrified-warmed blastocysts. However, normalization with GAPDH or H2A abolished these differences or produced opposite expression patterns between the two groups. These findings reveal that appropriate RG selection is essential for reliable RT-qPCR analysis of vitrified bovine embryos and provide a framework for future studies to improve embryo cryopreservation efficiency. - Source: PubMed
Publication date: 2026/05/08
Kim Tae-GyunKim Sung-HoLee Sang-YupKim Saet-ByulHeo Seong-EunJang MinYun Sung-HoKim Seung-JoonLee Won-Jae - Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID-19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of other acute neuropathies. This report describes a 16-year-old girl who developed abdominal pain, seizures, and rapidly progressive acute motor neuropathy shortly after COVID-19 and was initially misdiagnosed with Guillain-Barré syndrome (GBS). Diagnostic evaluation included electrophysiological studies, biochemical assays for porphyrin precursors, and genetic testing. AIP was suspected based on electrophysiological findings and elevated porphyrin precursors. The patient improved after initiation of a 10% dextrose infusion and a high-carbohydrate diet, with normalization of laboratory abnormalities. Subsequent genetic testing identified a heterozygous pathogenic variant (c.580C> T), confirming AIP. COVID-19 may unmask AIP and mimic a GBS-like neuropathy, increasing the risk of delayed recognition and suboptimal management. In patients with COVID-19-associated acute neuropathy-particularly when accompanied by abdominal pain, seizures, or neuropsychiatric features-clinicians should include AIP in the differential diagnosis and pursue prompt biochemical evaluation (urine PBG and ALA) to facilitate early targeted therapy and prevent complications. - Source: PubMed
Publication date: 2026/05/04
Sadeghi PaymanGhahvechi Akbari MasoodHassani Seyed AbbasAlimadadi HoseinHeidari MortezaZiaee Vahid - Peripheral neuropathy is caused by numerous etiologies, such as immune, infectious, neoplastic, metabolic, toxic, traumatic, vasculitic, hereditary factors, etc. Each etiological type has no special manifestation, and the misdiagnosis rate is relatively high. Acute intermittent porphyria (AIP) is a rare disease, often complicated by peripheral nerve injury, and can develop sequelae after delayed diagnosis or treatment. - Source: PubMed
Publication date: 2026/05/01
Li YurunWang DanhuaHong Daojun