HMBS
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | hydroxymethylbilane synthase |
| EntrezGene | 3145 |
| PheGenI | 3145 |
| VariationViewer | 3145 |
| ClinVar | HMBS |
| GeneCards | HMBS |
| dbSNP | 3145 |
| Diseases | HMBS |
| SADR | 3145 |
| HugeNav | 3145 |
| wikipedia | HMBS |
| HMBS | |
| gopubmed | HMBS |
| EVS | HMBS |
| HEFalMp | HMBS |
| MyGene2 | HMBS |
| 23andMe | HMBS |
| UniProt | P08397 |
| Ensembl | ENSG00000256269 |
| OMIM | 609806 |
| # SNPs | 32 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057518806 | 0 | 119,093,155 | |
| rs1057518886 | 5 | 119,090,045 | |
| rs1057521126 | 0 | 119,092,785 | |
| rs118204094 | 5 | 119,089,991 | |
| rs118204095 | 5 | 119,091,414 | |
| rs118204096 | 5 | 119,091,432 | |
| rs118204097 | 5 | 119,090,230 | |
| rs118204098 | 5 | 119,090,213 | |
| rs118204099 | 5 | 119,092,486 | |
| rs118204100 | 5 | 119,091,507 | |
| rs118204101 | 5 | 119,091,413 | |
| rs118204103 | 5 | 119,088,298 | |
| rs118204104 | 5 | 119,088,638 | |
| rs118204105 | 5 | 119,088,647 | |
| rs118204106 | 5 | 119,089,084 | |
| rs118204107 | 5 | 119,089,747 | |
| rs118204108 | 5 | 119,091,444 | |
| rs118204109 | 5 | 119,091,515 | |
| rs118204110 | 5 | 119,092,419 | |
| rs118204111 | 5 | 119,092,491 | |
| rs118204112 | 5 | 119,092,500 | |
| rs118204113 | 5 | 119,092,506 | |
| rs118204114 | 5 | 119,092,507 | |
| rs118204115 | 5 | 119,092,518 | |
| rs118204116 | 5 | 119,092,159 | |
| rs118204117 | 5 | 119,092,958 | |
| rs118204118 | 4 | 119,085,034 | |
| rs118204119 | 5 | 119,089,248 | |
| rs118204120 | 5 | 119,090,212 | |
| rs34413634 | 5 | 119,091,497 | |
| rs536814318 | 4.4 | 119,091,446 | |
| rs767103817 | 0 | 119,092,407 |
HMBS codes for the hydroxymethylbilane synthase enzyme, which is the 3rd of 8 steps necessary to producing vital heme molecules [1]. Defects in HMBS cause acute intermittent porphyria (AIP), with over 300 such mutations apparently identified. Many of the mutations are unique and are not listed in public databases.
A ClinGen Actionability summary (see Actionability (ClinGen)) providing recommendations for individuals with an AIP-associated HMBS mutation is available here.
