NP_038579.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
39,344 Da
NCBI Official Full Name
porphobilinogen deaminase isoform 1
NCBI Official Synonym Full Names
hydroxymethylbilane synthase
NCBI Protein Information
porphobilinogen deaminase; PBG-D; pre-uroporphyrinogen synthase
UniProt Protein Name
Porphobilinogen deaminase
UniProt Synonym Protein Names
Hydroxymethylbilane synthase; HMBS; Pre-uroporphyrinogen synthase
UniProt Synonym Gene Names
UniProt Entry Name
HEM3_MOUSE
UniProt Comments for HMBS
HMBS: Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps. Defects in HMBS are the cause of acute intermittent porphyria (AIP). AIP is a form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by acute attacks of neurological dysfunctions with abdominal pain, hypertension, tachycardia, and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Belongs to the HMBS family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Mitochondrial; EC 2.5.1.61; Transferase; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll
Cellular Component: axon; cytoplasm; condensed chromosome; nucleus
Molecular Function: transferase activity; amine binding; carboxylic acid binding; uroporphyrinogen-III synthase activity; coenzyme binding; hydroxymethylbilane synthase activity
Biological Process: tetrapyrrole biosynthetic process; peptidyl-pyrromethane cofactor linkage; porphyrin biosynthetic process; heme biosynthetic process
Research Articles on HMBS
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Pathways associated with HMBS elisa kit
Diseases associated with HMBS elisa kit
Organs/Tissues associated with HMBS elisa kit
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