HMBS Break Apart FISH Probe

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
HMBSBA-20-REGO 20 (40 μL) 200 μL color color Request Pricing
HMBSBA-20-REGR 20 (40 μL) 200 μL color color Request Pricing
HMBSBA-20-ORGR 20 (40 μL) 200 μL color color Request Pricing
HMBSBA-20-GOGR 20 (40 μL) 200 μL color color Request Pricing
HMBSBA-20-GRRE 20 (40 μL) 200 μL color color Request Pricing
HMBSBA-20-GROR 20 (40 μL) 200 μL color color Request Pricing
HMBSBA-20-GRGO 20 (40 μL) 200 μL color color Request Pricing
HMBSBA-20-AQOR 20 (40 μL) 200 μL color color Request Pricing

Gene Summary

This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Gene Details

Gene Symbol : HMBS

Gene Name : Hydroxymethylbilane synthase

Chromosome : CHR 11: 119,084,870-119,093,548

Locus : 11q23.3

Alt. Genes : PREB

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