| Gene Symbol | HMBS |
|---|---|
| Entrez Gene | 3145 |
| Alt Symbol | PBG-D, PBGD, PORC, UPS |
| Species | Human |
| Gene Type | protein-coding |
| Description | hydroxymethylbilane synthase |
| Other Description | porphobilinogen deaminase|porphyria, acute; Chester type|pre-uroporphyrinogen synthase|uroporphyrinogen I synthase|uroporphyrinogen I synthetase |
| Swissprots | G3V1P4 Q16012 P08396 A8K2L0 G5EA58 P08397 |
| Accessions | AAA60028 AAA60029 AAA60030 AAC60602 ABI36594 AHW82961 BAA01463 BAA02216 BAD36778 BAG71787 CAA48156 EAW67447 EAW67448 EAW67449 EAW67450 P08397 AK000628 AK131072 AK290275 BAF82964 AK309544 AK310343 AW139390 BC000520 AAH00520 BC008149 AAH08149 BC019323 AAH19323 BF210364 BQ020524 BX647328 CB128006 D28419 BAA05785 HQ448217 ADQ32697 HQ731552 ADX60069 M60888 X04217 CAA27801 X04808 CAA28499 XM_005271531 XP_005271588 XM_005271532 XP_005271589 XM_005271533 XP_005271590 XM_011542796 XP_011541098 NM_000190 NP_000181 NM_001024382 NP_001019553 NM_001258208 NP_001245137 NM_001258209 NP_001245138 |
| Function | Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps. |
| Subcellular Location | Cytoplasm {ECO:0000305}. |
| Tissue Specificity | Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells. {ECO:0000269|PubMed:3422427}. |
| Top Pathways | Porphyrin and chlorophyll metabolism |