HMBS - hydroxymethylbilane synthase Gene

Homo sapiens

Also known as UPS; PBGD; PORC; PBG-D

Gene ID: 3145 | Gene type: protein coding

About HMBS

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:119,084,881-119,093,549 (from NCBI)

This gene has 36 transcripts (splice variants), 234 orthologues and is associated with 2 phenotypes. Biased expression in bone marrow (RPKM 55.8), colon (RPKM 5.0) and 13 other tissues.

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]

HMBS Products(4)

mRNA	Protein	Name
NM_000190.4	NP_000181.2	porphobilinogen deaminase isoform 1
NM_001024382.2	NP_001019553.1	porphobilinogen deaminase isoform 2
NM_001258208.2	NP_001245137.1	porphobilinogen deaminase isoform 3
NM_001258209.2	NP_001245138.1	porphobilinogen deaminase isoform 4

HMBS Protein Structure

Porphobil_deam

Porphobil_deamC

0
100
200
300
361 a.a.

Protein Preferred Names

Protein Names

porphobilinogen deaminase

porphyria, acute

Recombinant HMBS Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70269	HMBS/Porphobilinogen deaminase Protein, Human (HEK293, His)	P08397 (S2-H361)	≥95%
HY-P70269A	HMBS/Porphobilinogen deaminase Protein, Human (N-His)	P08397 (S2-H361)	≥95%
HY-P70269Y	HMBS/Porphobilinogen deaminase Protein, Human (HEK293, His, solution)	P08397 (S2-H361)	≥95%

Related Diseases

Diseases

Alias

Porphyria, Acute Intermittent

Acute Intermittent Porphyria	Porphobilinogen Deaminase Deficiency
Pbgd Deficiency	AIP
Porphyria, Swedish Type	Uroporphyrinogen Synthase Deficiency
Ups Deficiency	Porphyria, Acute Intermittent, Nonerythroid Variant
Hydroxymethylbilane Synthase Deficiency	Aip - Acute Intermittent Porphyria
Porphyria Intermittent Acute	Pyrroloporphyria
Hmbs Deficiency	Porphyria Acute Intermittent

Acute Porphyria

Porphyrias, Hepatic	Hepatic Porphyria
Porphyria Hepatic	Acute Intermittent Porphyria

Porphyria

Hematoporphyria	Porphyrias
Disorder Of Porphyrin And Hem Metabolism	Disorder Of Porphyrin Metabolism
Porphyrinopathy	Porphyrin Disorder
Disorder Of Porphyrin And Heme Metabolism	Disorders Of Porphyrin Metabolism

Variegate Porphyria

Porphyria Variegata	Protoporphyrinogen Oxidase Deficiency
VP	Ppox Deficiency
Porphyria, South African Type	Porphyria Variegata, Susceptibility To
Protocoproporphyria	Porphyria Variegate
Porphyria South African Type	Pv
Porphyria, Variegate	Vp - [Variegate Porphyria]

Coproporphyria, Hereditary

Hereditary Coproporphyria	Coproporphyria
Coproporphyrinogen Oxidase Deficiency	HCP
Cpo Deficiency	Cpox Deficiency
Cpx Deficiency	Hereditary Coproporphyria Porphyria
Cpro Deficiency	Coproporphyria Hereditary
Porphyria Hepatica Ii	Porphyria Hepatica Coproporphyria
Porphyria, Hereditary Coproporphyria	Harderoporphyria

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria	HEP
Uroporphyrinogen Decarboxylase Deficiency	Pct
Pct, Type Ii	Porphyria, Hepatocutaneous Type
Urod Deficiency	Porphyria, Hepatoerythropoietic
Porphyria Cutanea Tarda, Susceptibility To	Familial Porphyria Cutanea Tarda
Porphyria Cutanea Tarda, Type Ii	Pct, 'Familial' Type
Porphyria, Hepatic	FPCT
Pct Type Ii	Porphyria Cutanea Tarda Type Ii
Porphyria Hepatocutaneous Type	Heterozygous Uroporphyrinogen Decarboxylase Deficiency
Urod - [Uroporphyrinogen Decarboxylase] Deficiency	Pct - [Porphyria Cutanea Tarda]

Anxiety

Anxiety Disorder	Anxiety Disorders
Anxiety State	Anxieties
Anxiety Neurosis

O'Nyong'Nyong Fever

O'Nyong-Nyong Fever	O'Nyong-Nyong Mosquito-Borne Viral Fever
O'Nyong-Nyong Arthritis	Onn - [O'Nyong-Nyong Fever]

Colonic Pseudo-Obstruction

Primary Chronic Pseudo-Obstruction Of Colon

Lichen Sclerosus Et Atrophicus

Lichen Sclerosus	LSA
Lichen Sclerosis	Lichen Sclerosis Et Atrophicus
Ls Et A - [Lichen Sclerosus Et Atrophicus]	Lichen Albus

Porphyria, Congenital Erythropoietic

Congenital Erythropoietic Porphyria	Gunther Disease
CEP	Uros Deficiency
Günther Disease	Uroporphyrinogen Iii Synthase Deficiency
Congenital Porphyria	Uroporphyrinogen Iii Synthase, Deficiency Of
Porphyria, Erythropoietic, Congenital	Porphyria, Erythropoietic
Deficiency Of Uroporphyrinogen Iii Synthase

Gilles De La Tourette Syndrome

Tourette Syndrome	Tourette Disorder
GTS	Ts
Gilles De La Tourette'S Syndrome	Motor-Verbal Tic Disorder
Guinon'S Disease	Psychogenic Tics
Tourette'S Syndrome	Chronic Motor And Vocal Tic Disorder
Td	Tourette'S Disease
Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]	Combined Vocal And Multiple Motor Tic Disorder
Tic De La Tourette

Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria	Epp
Ferrochelatase Deficiency	Protoporphyria, Erythropoietic
Erythrohepatic Protoporphyria	Heme Synthetase Deficiency
Autosomal Erythropoietic Protoporphyria	EPP1
Protoporphyria	Protoporphyria Erythropoietic

Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome

Fowler Syndrome	Encephaloclastic Proliferative Vasculopathy
Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy	PVHH
Epv	Cerebral Proliferative Glomeruloid Vasculopathy
Hydranencephaly, Fowler Type	Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly
Fowler'S Syndrome	Fowler Christmas Chapple Syndrome
Fowler Vasculopathy	Polycystic Ovaries Urethral Sphincter Dysfunction
Voiding Dysfunction And Polycystic Ovaries	Fowler Vasculopaty
Hydranencephaly Fowler Type	Pgv
Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome

Sarcoma, Synovial

Synovial Sarcoma	Synovialosarcoma
Synovial Cell Sarcoma	Sarcoma Synovial

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-119524	Clofibride		/	Unkown
HY-137281	HMB-Val-Ser-Leu-VE	Inhibitor	/	Unkown
HY-RS06224	HMBS Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HMBS	MGD	MGI:96112
Bos taurus	HMBS	VGNC	VGNC:29870
Rattus norvegicus	HMBS	RGD	RGD:2801
Macaca mulatta	HMBS	VGNC	VGNC:73479
Felis catus	HMBS	VGNC	VGNC:67590
Canis familiaris	HMBS	VGNC	VGNC:41704
Others	HMBS	NCBI

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