P4HB - prolyl 4-hydroxylase subunit beta Gene

Homo sapiens

Also known as DSI; GIT; PDI; PHDB; PDIA1; PO4DB; PO4HB; PROHB; CLCRP1; ERBA2L; P4Hbeta

Gene ID: 5034 | Gene type: protein coding

About P4HB

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,843,166-81,860,535 (from NCBI)

This gene has 72 transcripts (splice variants), 215 orthologues, 13 paralogues and is associated with 4 phenotypes. Ubiquitous expression in duodenum (RPKM 328.5), liver (RPKM 325.1) and 25 other tissues.

Summary

This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional Enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this Enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This Enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]

P4HB Products(1)

mRNA	Protein	Name
NM_000918.4	NP_000909.2	protein disulfide-isomerase precursor

P4HB Protein Structure

Thioredoxin

Thioredoxin_6

Thioredoxin

0
100
200
300
400
508 a.a.

Protein Preferred Names

Protein Names

protein disulfide-isomerase

cellular thyroid hormone-binding protein

Recombinant P4HB Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71087	P4HB Protein, Human (HEK293, His)	P07237 (D18-K505)	≥95%
HY-P71917	P4HB Protein, Human (His)	P07237 (A19-L508)	≥95%

Related Diseases

Diseases

Alias

Cole-Carpenter Syndrome 1

CLCRP1	Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features
Cole-Carpenter Syndrome, Type 1

Cole-Carpenter Syndrome

Cole Carpenter Syndrome	Bone Fragility Craniosynostosis Proptosis Hydrocephalus
Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features	Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I	OI1
Oi, Type I	Osteogenesis Imperfecta Tarda
Osteogenesis Imperfecta With Blue Sclerae	Osteogenesis Imperfecta Type 1
Adair-Dighton Syndrome	Mild Osteogenesis Imperfecta
Non-Deforming Osteogenesis Imperfecta	Oi Type 1
Van Der Hoeve Syndrome	Classic Non-Deforming Oi With Blue Sclerae
Osteogenesis Imperfecta 1	Oi-I
Osteopenic Non-Fracture Syndrome	Osteogenesis Imperfecta, Mild
Osteogenesis Imperfecta	Lobstein'S Disease

Abetalipoproteinemia

Acanthocytosis	ABL
Bassen-Kornzweig Syndrome	Mtp Deficiency
Familial Hypobetalipoproteinemia	Abetalipoproteinaemia
Microsomal Triglyceride Transfer Protein Deficiency	Microsomal Triglyceride Transfer Protein Deficiency Disease
Abetalipoproteinemia Neuropathy	Apolipoprotein B Deficiency
Bassen-Kornzweig Disease	Betalipoprotein Deficiency Disease
Congenital Betalipoprotein Deficiency Syndrome	Homozygous Familial Hypobetalipoproteinemia
Fhbl	Bassen Kornzweig Syndrome
Hypobetalipoproteinemia, Familial	Hypobetalipoproteinemia
Hypobetalipoproteinemias	Hypobetalipoproteinemia, Familial, Apolipoprotein B

Halothane Hepatitis

Hepatitis Halothane

Pseudoachondroplasia

PSACH	Pseudoachondroplastic Dysplasia
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome	Spondyloepiphyseal Dysplasia, Pseudoachondroplastic
Pseudoachondroplastic Spondyloepiphyseal Dysplasia	Spondyloepiphyseal Dysplasia Pseudoachondroplastic

Carpenter Syndrome 1

Carpenter Syndrome	Acrocephalopolysyndactyly Type Ii
Acps Ii	CRPT1
Acrocephalopolysyndactyly Type 2	Acrocephalosyndactyly, Type Ii
Acrocephalopolysyndactyly 2	Acps2
Acps 2	Type Ii Acrocephalosyndactyly
Carpenter Syndrome, Type 1	Apert-Crouzon Disease

Cholera

Vibrio Cholerae Infection	Cholera - Vibrio Cholerae
Cholera Due To Vibrio Cholerae	Vibrio Cholerae
Cholera Syndrome	Asiatic Cholera
Epidemic Cholera

Hypobetalipoproteinemia, Familial, 1

Hypobetalipoproteinemia	Familial Hypobetalipoproteinemia 1
Familial Hypobetalipoproteinemia	FHBL1
Hypobetalipoproteinemia, Familial	Fhbl
Acanthocytosis With Hypobetalipoproteinemia	Hypobetalipoproteinemias
Hypobetalipoproteinemia, Normotriglyceridemic	Hypo-Beta-Lipoproteinemia
Hypobetalipoprotéinemia, Familial	Normotriglyceridemic Hypobetalipoproteinemia
Hypobetalipoproteinemia, Familial, Type 1

Maxillary Sinus Inverted Papilloma

Inverted Papilloma Of The Maxillary Sinus

Maxillary Sinus Benign Neoplasm

Neoplasm Of Maxillary Sinus	Tumor Of Maxillofacial Sinus
Maxillary Sinus Neoplasms	Maxillary Sinus Neoplasm

Microcephaly 7, Primary, Autosomal Recessive

MCPH7	Primary Autosomal Recessive Microcephaly 7
Microcephaly, Primary Autosomal Recessive, 7

Outlet Dysfunction Constipation

Congenital Hypothyroidism

Cretinism	Neonatal Hypothyroidism
Ch	Cht
Congenital Myxedema	Myxedema, Congenital
Endemic Cretinism	Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome	Congenital Iodine-Deficiency Hypothyroidism Nos

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive	Hydrocephalus, X-Linked
Hydrocephalus Adverse Event	Hydrocephaly Nos

Cutis Laxa

Generalized Elastolysis	Loose Skin
Dermatolysis	Dermatomegaly
Cutis Laxa Syndrome

Cortical Deafness

Retinitis Pigmentosa 61

RP61	Retinitis Pigmentosa, Type 61

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like	Scd-Eds
EDSSPD3	Ehlers-Danlos Syndrome Spondylodysplastic Type 3
Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type	Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Slc39a13-Related Speds	Slc39a13-Related Spondylodysplastic Eds
Spondylocheirodysplastic Ehlers-Danlos Syndrome	Speds-Slc39a13
Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia	Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Osteogenesis Imperfecta, Type Xi

Osteogenesis Imperfecta Type 11	OI11
Osteogenesis Imperfecta Type Xi	Oi, Type Xi
Osteogenesis Imperfecta 11	Oi Type Xi
Oi-Xi

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09945	P4HB Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	P4HB	VGNC	VGNC:44225
Mus musculus	P4HB	MGD	MGI:97464
Bos taurus	P4HB	VGNC	VGNC:32538
Felis catus	P4HB	VGNC	VGNC:68678
Macaca mulatta	P4HB	VGNC	VGNC:75743
Rattus norvegicus	P4HB	RGD	RGD:3244
Others	P4HB	NCBI