PAX1 - paired box 1 Gene

Homo sapiens

Also known as OFC2; HUP48

Gene ID: 5075 | Gene type: protein coding

About PAX1

Cytogenetic location: 20p11.22 Genomic coordinates (GRCh38): 20:21,705,664-21,718,481 (from NCBI)

This gene has 4 transcripts (splice variants), 224 orthologues, 50 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]

PAX1 Products(2)

mRNA	Protein	Name
NM_001257096.2	NP_001244025.1	paired box protein Pax-1 isoform 2
NM_006192.5	NP_006183.2	paired box protein Pax-1 isoform 1

PAX1 Protein Structure

PAX

0
100
200
300
400
500
534 a.a.

Protein Preferred Names

Protein Names

paired box protein Pax-1

paired box gene 1

Related Diseases

Diseases

Alias

Otofaciocervical Syndrome 2, With T-Cell Deficiency

Otofaciocervical Syndrome 2	OTFCS2
Ofc2	Otofaciocervical Syndrome, Type 2
Orofacial Cleft 2

Otofaciocervical Syndrome 1

Otofaciocervical Syndrome	OTFCS
Ofc	Ofc1
Fara-Chlupackova Syndrome	Ofc Syndrome
OTFCS1	Oto-Facio-Cervical Syndrome
Orofacial Cleft 1	Fara Chlupackova Syndrome

Craniofacial Microsomia

Goldenhar Syndrome	Hemifacial Microsomia
Oculoauriculovertebral Spectrum	Oavs
Oculo-Auriculo-Vertebral Spectrum	CFM
Oav Dysplasia	Facioauriculovertebral Sequence
Fav Sequence	First And Second Branchial Arch Syndrome
Otomandibular Dysostosis	Hfm
Oculoauriculovertebral Dysplasia	Facio-Auriculo-Vertebral Spectrum
Facioauriculovertebral Dysplasia	Oculo-Auriculo-Vertebral Dysplasia
First Arch Syndrome	Oav Dysplasia
Goldenhar Disease	Expanded Spectrum Hemifacial Microsomia
Expanded Spectrum Of Hemifacial Microsomia	Oculoauriculovertebral Syndrome
Oavd	Asymmetric Hypoplasia Of Facial Structures
Auriculobranchiogenic Dysplasia	Fav
First And Second Pharyngeal Arch Syndromes	Goldenhar-Gorlin Syndrome
Lateral Facial Dysplasia	Oav Complex
Oral-Mandibular-Auricular Syndrome	Unilateral Intrauterine Facial Necrosis
Unilateral Mandibulofacial Dysostosis	Oav Spectrum
Oculoauricular Vertebral Dysplasia	Microsomia, Hemifacial
Goldenhar Syndrome With Ipsilateral Radial Defect

T Cell Deficiency

T Cell Immunodeficiency	T Lymphocyte Deficiency
T Lymphocyte Immunodeficiency	T-Lymphocyte Deficiency

Klippel-Feil Syndrome

Cervical Vertebral Fusion	Congenital Dystrophia Brevicollis
Cervical Fusion Syndrome	Klippel-Feil Deformity
Autosomal Dominant Klippel-Feil Syndrome	Congenital Synostosis Of Cervical Vertebrae
Klippel-Feil And Turner Syndrome	Klippel-Feil Deformity, Deafness And Facial Asymmetry
Klippel Feil Syndrome	Cervical Vertebral Fusion Syndrome
Dystrophia Brevicollis Congenita	Fusion Of Cervical Vertebrae
Kfs	Klippel-Feil Sequence
Vertebral Cervical Fusion Syndrome	Klippel-Feil Syndrome, Autosomal Dominant
Klippel-Feil Malformation	Isolated Klippel-Feil Syndrome

Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome	SCDO1
Vertebral Anomalies	Spondylothoracic Dysplasia
Costovertebral Dysplasia	Spondylothoracic Dysostosis
Spondylocostal Dysostosis 1	Autosomal Recessive Spondylocostal Dysostosis 1
Spondylocostal Dysostosis, Autosomal Recessive, 1	Doid:0112365
Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Diaphanospondylodysostosis

Vertebral Ossification, Defect In, With Nephrogenic Rests	DSD
Defect In Vertebral Ossification With Nephrogenic Rests

T-Cell Immunodeficiency With Thymic Aplasia

Nezelof Syndrome	T-Lymphocyte Deficiency
TIDTA	Immune Defect Due To Absence Of Thymus
Thymic Aplasia	Nezelof'S Syndrome
Thymic Dysplasia With Normal Immunoglobulins	Thymic Aplasia Syndrome
T-Lymphocyte Immunodeficiency

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Scoliosis

Scheuermann Disease

Scheuermann'S Disease	Spinal Osteochondrosis
Juvenile Osteochondrosis Of Spine	Familial Scheuermann Disease
Familial Scheuermann Juvenile Kyphosis	Familial Spinal Osteochondrosis
Scheuermann Juvenile Kyphosis	Juvenile Osteochondritis Of The Spine
Juvenile Osteochondrosis Of Scheurermann	Scheuermann'S Kyphosis
Sherman'S Disease	Juvenile Kyphosis
Scheuermann Kyphosis	[X]Spinal Osteochondrosis, Unspecified

Ovarian Seromucinous Carcinoma

Mixed Epithelial Carcinoma Of Ovary

Ovary Mixed Epithelial Carcinoma

Chronic Cervicitis

Spina Bifida Occulta

Branchiootorenal Syndrome 1

Melnick-Fraser Syndrome	BOR1
Branchiootorenal Dysplasia	Branchiootorenal Syndrome 1, With Or Without Cataracts
Bor Syndrome 1	Branchiootorenal Dysplasia 1
Branchio-Oto-Renal Dysplasia 1	Branchio-Oto-Renal Syndrome Type 1
Branchiootorenal Syndrome, With/Without Cataract, Type 1	Branchio-Oto-Renal Syndrome

Severe Combined Immunodeficiency

Scid	Severe Combined Immunodeficiency Disease
Combined T And B Cell Inborn Immunodeficiency	Immunodeficiency, Severe Combined
Scid - [Severe Combined Immunodeficiencies]

Uterus Carcinoma In Situ

Cervix Uteri Carcinoma In Situ

Carcinoma In Situ Of Cervix	Carcinoma In Situ Of Uterine Cervix
Cervical Intraepithelial Neoplasia	Carcinoma Of Cervix Stage 0
Cervical Intraepithelial Neoplasia Grade Iii With Severe Dysplasia	Cervix Ca In Situ
Cin Iii	Cin Iii - Carcinoma In Situ Of Cervix
Cin Iii - Severe Dyskaryosis	Severe Dysplasia Of Cervix
Severe Dysplasia Of The Cervix Uteri	Squamous Intraepithelial Neoplasia, Grade Iii
Cervix Intraepithelial Neoplasia Grade 3 Ajcc V7

Spondylocostal Dysostosis

Jarcho-Levin Syndrome	Costovertebral Dysplasia
Spondylothoracic Dysostosis	Spondylothoracic Dysplasia
Scdo	Dysostosis, Spondylocostal

Waardenburg'S Syndrome

Waardenburg Syndrome	Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Van Der Hoeve Halbertsona Waardenburg Syndrome	Waardenburg Shah Syndrome
Waardenburg, Types I And/Or Ii	Mende Syndrome
Waardenburgs Syndrome	Waardenburg Syndrome, Type 4a

Bone Structure Disease

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Branchiootic Syndrome

Bo Syndrome	Branchiootic Dysplasia
Bor	Bo Syndrome 1
Bos1	Branchiootic Syndrome 1

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome	Caudal Regression Sequence
Sacral Agenesis	Caudal Dysgenesis Syndrome
SDAM	Caudal Dysplasia Sequence
Caudal Dysplasia	Sacral Agenesis Syndrome
Sacral Regression Syndrome	Sacral Defect And Anterior Sacral Meningocele
Rudd Klimek Syndrome	Sirenomelia

Syringomyelia

Hydromyelia

Aniridia 1

Aniridia	Congenital Aniridia
AN1	An
Cataract With Late-Onset Corneal Dystrophy	Aplasia Of Iris
Absent Iris	Irideremia
Aniridia Ii, Formerly	An2, Formerly
An2	Aniridia Type Ii
Aniridia, Type 1	An-1
Absence Of Iris	Agenesis Of Iris
Congenital Absence Of Iris	Hereditary Aniridia
Sporadic Aniridia

Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive	Autosomal Recessive Robinow Syndrome
Covesdem Syndrome	RRS1
Costovertebral Segmentation Defect-Mesomelia Syndrome	Rrs
Costovertebral Segmentation Defect With Mesomelia, Formerly	Covesdem Syndrome, Formerly
Costovertebral Segmentation Defect With Mesomelia	Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly	Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals
Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly	Robinow, Autosomal Recessive Syndrome, Type 1

Omenn Syndrome

Histiocytic Medullary Reticulosis	Severe Combined Immunodeficiency With Hypereosinophilia
Combined Immunodeficiency With Hypereosinophilia	Reticuloendotheliosis, Familial, With Eosinophilia
Reticuloendotheliosis Familial With Eosinophilia	Familial Reticuloendotheliosis
Omenn'S Syndrome	OS
Malignant Histiocytosis

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

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-RS10088	PAX1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PAX1	RGD	RGD:1588548
Felis catus	PAX1	VGNC	VGNC:68696
Bos taurus	PAX1	VGNC	VGNC:57042
Mus musculus	PAX1	MGD	MGI:97485
Macaca mulatta	PAX1	VGNC	VGNC:75760
Canis familiaris	PAX1	VGNC	VGNC:44275