TMEM67 - transmembrane protein 67 Gene

Also Known as MKS3; JBTS6; NPHP11; TNEM67; MECKELIN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 91147

About TMEM67

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:93,754,844-93,832,653 (from NCBI)

This gene has 47 transcripts (splice variants), 210 orthologues and is associated with 14 phenotypes. Broad expression in testis (RPKM 4.7), thyroid (RPKM 3.1) and 23 other tissues.

Summary

The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]

TMEM67 Products (2)

mRNA Protein Name
NM_001142301.1 NP_001135773.1 meckelin isoform 2
NM_153704.6 NP_714915.3 meckelin isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables filamin binding IPI
IPI: Inferred from physical interaction
22121117 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17185389 GOA
enables unfolded protein binding IPI
IPI: Inferred from physical interaction
19815549 GOA
Biological Process GO Annotation Evidence References Source
involved in ERAD pathway IMP
IMP: Inferred from mutant phenotype
19815549 GOA
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
19515853 GOA
involved in negative regulation of centrosome duplication IMP
IMP: Inferred from mutant phenotype
19515853 GOA
involved in non-canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
34964473 GOA
Cellular Component GO Annotation Evidence References Source
located in centrosome IDA
IDA: Inferred from direct assay
17185389 GOA
located in ciliary membrane IDA
IDA: Inferred from direct assay
17185389 GOA
located in ciliary transition zone IDA
IDA: Inferred from direct assay
26595381 GOA
located in cytoplasmic vesicle membrane IDA
IDA: Inferred from direct assay
19815549 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
19815549 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM67 Protein Structure

Meckelin

Meckelin: Meckelin (Transmembrane protein 67) (164 - 995)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 995 a.a.
Protein Preferred Names Protein Names

meckelin

  • meckel syndrome type 3 protein

TMEM67 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TMEM67 Q5HYA8 APP Homo sapiens P05067-2 32814053
Intra
TMEM67 Q5HYA8 APP Homo sapiens P05067-2 32814053
Intra
TMEM67 Q5HYA8 APP Homo sapiens P05067-2 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

TMEM67 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83312 Meckelin Antibody (YA3057) WB, ICC/IF Human
HY-P83312A Meckelin Antibody (YA3057)(PBS only) WB, ICC/IF Human

Related Diseases

Diseases Alias
Rhyns Syndrome
  • RHYNS

  • Retinitis Pigmentosa Syndrome

  • Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, And Mild Skeletal Dysplasia

  • Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome

  • Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis And Skeletal Dysplasia Syndrome

Coach Syndrome 1
  • Coach Syndrome

  • Joubert Syndrome With Congenital Hepatic Fibrosis

  • Gentile Syndrome

  • Joubert Syndrome With Hepatic Defect

  • Js-H

  • COACH1

  • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis

  • Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis

  • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis

  • Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis

Meckel Syndrome, Type 3
  • MKS3

  • Meckel Syndrome 3

  • Meckel-Gruber Syndrome, Type 3

  • Meckel Syndrome Type 3

Joubert Syndrome 6
  • JBTS6

  • Joubert Syndrome, Type 6

Nephronophthisis 11
  • NPHP11

  • Nephronophthisis, Type 11

Bardet-Biedl Syndrome 14
  • BBS14

  • Bardet-Biedl Syndrome 14, Modifier Of

  • Bardet-Biedl Syndrome, Type 14

Coloboma Of Iris
  • Iris Coloboma

  • Cleft Iris

  • Congenital Coloboma Of Iris

  • Notched Iris

  • Coloboma Nos

  • Coloboma Of Iris, Choroid And Retina

  • Coloboma Of Eye

  • Congenital Ocular Coloboma

  • Ocular Coloboma

Meckel Syndrome, Type 1
  • Meckel-Gruber Syndrome

  • Meckel Syndrome

  • Dysencephalia Splanchnocystica

  • Meckel Syndrome 1

  • MKS1

  • Mks

  • Gruber Syndrome

  • Meckel-Gruber Syndrome, Type 1

  • Mes

  • Dysencephalia Splachnocystica

  • Meckel Gruber Syndrome

  • Meckel Syndrome Type 1

Joubert Syndrome 1
  • Joubert Syndrome

  • Jbts

  • Cerebellooculorenal Syndrome 1

  • JBTS1

  • Joubert-Boltshauser Syndrome

  • Cerebelloparenchymal Disorder Iv

  • Cpd4

  • Cors1

  • Joubert Syndrome And Related Disorders

  • Jsrd

  • Familial Aplasia Of The Vermis

  • Joubert Syndrome Related Disorders

  • Js

  • Cerebellar Vermis Agenesis

  • Cerebelloparenchymal Disorder 4

  • Agenesis Of Cerebellar Vermis

  • Cerebello-Oculo-Renal Syndrome

  • Cors

  • Joubert-Bolthauser Syndrome

  • Cpd Iv

  • Classic Joubert Syndrome

  • Joubert Syndrome Type A

  • Pure Joubert Syndrome

  • Cerebello-Oculo-Renal Syndrome 1

  • Joubert Syndrome-1

  • Joubert Syndrome, Type 1

  • Joubert'S Syndrome

Senior-Boichis Syndrome
  • Boichis Disease

  • Nephronophthisis-Hepatic Fibrosis Syndrome

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Peritonitis
  • Retractile Mesenteritis

  • Sclerosing Mesenteritis

  • Acute Generalized Peritonitis

  • Primary Bacterial Peritonitis

  • Idiopathic Sclerosing Mesenteritis

  • Mesenteric Panniculitis

  • Peritoneal Retractile Mesenteritis

  • Liposclerotic Mesenteritis

  • Mesenteric Fibromatosis

  • Mesenteric Lipodystrophy

  • Mesenteric Lipogranuloma

  • Fibromatosis, Abdominal

  • Peritoneum Inflammation

  • Peritonitis Of Undetermined Cause

  • Peritonitis Of Unspecified Cause

  • Pelviperitonitis

  • Pelvic Peritonitis, Nos

  • Generalised Peritonitis Nos

  • Abdominal Peritonitis

  • Acute Idiopathic Peritonitis

  • Acute Lesser Sac Peritonitis

  • Acute Peritoneal Inflammation

  • Diffuse Peritonitis

  • Peritoneal Inflammation

  • Acute Primary Peritonitis

  • Pneumococcal Peritonitis

Cerebellar Malformation
Oligohydramnios
  • Oligohydramnios - Delivered

  • Antepartum Oligohydramnios

  • Delivered Oligohydramnios

  • Oligohydramnios, Antepartum Condition Or Complication

  • Deficient Liquor

  • Oligohydramnios, Unspecified Trimester

  • Reduced Liquor Volume

Cystic Kidney Disease
  • Renal Cyst

  • Simple Renal Cyst

  • Kidney Cysts

  • Kidney Diseases, Cystic

  • Renal Cysts

  • Kidney Cyst

  • Cystic Kidney

  • Congenital Cystic Kidney Disease

  • Cystic Kidney Diseases

  • Bosniak 1 Cyst

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

Coloboma Of Macula
  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma

Coloboma, Ocular, Autosomal Dominant
  • Coloboma, Ocular

  • Coloboma Of Iris, Choroid, And Retina

  • Coi

  • Coloboma, Uveoretinal

  • COAD

  • Ocular Coloboma

  • Uveoretinal Coloboma

  • Chronic Obstructive Airway Disease

Tremor
  • Medicament-Induced Tremor

  • Medication-Induced Postural Tremor

Pancreatitis
  • Mumps Pancreatitis

Encephalocele
  • Cephalocele

  • Craniocele

  • Bifid Cranium

  • Cranium Bifidum

  • Encephaloceles

Joubert Syndrome 2
  • Cerebellooculorenal Syndrome 2

  • JBTS2

  • Cors2

  • Cerebello-Oculo-Renal Syndrome 2

  • Joubert Syndrome, Type 2

Nephronophthisis
  • Medullary Cystic Disease

  • Medullary Cystic Kidney

  • Nph

  • Nphp

  • Kidney Disease, Cystic, Medullary

Joubert Syndrome 5
  • JBTS5

  • Joubert Syndrome, Type 5

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Joubert Syndrome 26
  • JBTS26

Apraxia
  • Apraxias

  • Dyspraxia

Joubert Syndrome 3
  • JBTS3

  • Joubert Syndrome With Ocular Defect

  • Joubert Syndrome With Ocular Anomalies

  • Js-O

  • Joubert Syndrome With Retinopathy

  • Joubert Syndrome-3

  • Joubert Syndrome, Type 3

Joubert Syndrome 13
  • JBTS13

  • Joubert Syndrome, Type 13

Polydactyly
  • Non-Syndromic Polydactyly

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • Supernumerary Digit

  • Extra Digits

  • Hyperdactyly

  • Polydactylia

  • Polydactylism

  • Supernumerary Digits

Hydrolethalus Syndrome 1
  • Hydrolethalus Syndrome

  • HLS1

  • Salonen-Herva-Norio Syndrome

  • Hls

  • Hydrolethalus

  • Hydrolethalus Syndrome, Type 1

Nephronophthisis 19
  • NPHP19

  • Nephronophthisis, Type 19

Hypopituitarism
  • Pituitary Hypofunction

  • Pituitary Insufficiency

  • Pituitary Hormone Deficiency

  • Subpituitarism

  • Hypophyseal Dystrophy

  • Hypohypophysism

  • Anterior Pituitary Insufficiency

  • Deficient Secretion Of One Or More Pituitary Hormones

  • Hypopituitarism Syndrome

  • Pituitary Deficiency

  • Pituitary Failure

  • Pituitary Insufficiency Nos

  • Anterior Pituitary Hypofunction

  • Deficient Secretion Of All Pituitary Hormones

  • Hypopituitary Dwarfism

  • Hyposomatotropic Dwarfism

  • Hypophyseal Dwarfism

  • Hypopituitary Cachexia

  • Hypophyseal Short Stature

  • Panhypopituitarism Syndrome

  • Pituitary Cachexia

  • Juvenile Hypopituitarism

  • Pituitary Dwarfism

  • Pituitary Gland Hypofunction

  • Primary Hypopituitarism

  • Secondary Hypogonadism

  • Prepubertal Panhypopituitarism

  • Prepubertal Dwarfism

  • Postpartum Panhypopituitary Syndrome

  • Postpartum Hypopituitarism

  • Pituitary Short Stature

  • Pituitary Infantilism

  • Pituitary Hypogonadism

  • Pituitary Hypoadrenocorticism

Orofaciodigital Syndrome Vi
  • OFD6

  • Varadi-Papp Syndrome

  • Varadi Syndrome

  • Joubert Syndrome With Orofaciodigital Defect

  • Orofaciodigital Syndrome Type 6

  • Orofaciodigital Syndrome 6

  • Oral-Facial-Digital Syndrome, Type Vi

  • Ofds Vi

  • Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation

  • Polydactyly Cleft Lip Palate Psychomotor Retardation

  • Oral-Facial-Digital Syndrome Type 6

  • Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome

  • Polydactyly - Cleft Lip/Palate - Psychomotor Retardation

  • Váradi Syndrome

  • Váradi-Papp Syndrome

  • Joubert Syndrome With Oral-Facial-Digital Syndrome

  • Oral-Facial-Digital Syndrome 6

  • Joubert-Orofaciodigital Syndrome

  • Orofaciodigital Syndrome, Type Vi

Meningocele
  • Isolated Spina Bifida

  • Spina Bifida

  • Cleft Spine

  • Open Spine

  • Rachischisis

  • Spinal Dysraphism

  • Spinal Meningocele

  • Congenital Meningocele

Senior-Loken Syndrome 1
  • Senior-Loken Syndrome

  • Renal Dysplasia And Retinal Aplasia

  • Renal-Retinal Syndrome

  • Loken-Senior Syndrome

  • Juvenile Nephronophthisis With Leber Amaurosis

  • SLSN1

  • Senior-Loken Syndrome-1

  • Loken Senior Syndrome

  • Senior Loken Syndrome

  • Renal Dysplasia Retinal Aplasia

  • Nephronophthisis With Retinal Dystrophy

  • Renal Dysplasia-Retinal Aplasia Syndrome

  • Slsn

Meckel Syndrome, Type 4
  • Meckel Syndrome 4

  • MKS4

  • Meckel-Gruber Syndrome, Type 4

  • Meckel Syndrome Type 4

Orofaciodigital Syndrome
  • Oral-Facial-Digital Syndrome

  • Orofaciodigital Syndromes

  • Ofd

  • Oral Facial Digital Syndromes

  • Oral-Facial-Digital Syndromes

  • Dysplasia Linguofacialis

  • Ofds

  • Oro-Facio-Digital Syndrome

  • Orodigitofacial Dysostosis

  • Orodigitofacial Syndrome

  • Oral Facial Digital Syndrome

  • Orofaciodigital Syndrome I

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
  • Autosomal Recessive Polycystic Kidney Disease

  • Arpkd

  • Polycystic Kidney Disease, Autosomal Recessive

  • Polycystic Kidney And Hepatic Disease 1

  • Pkhd1

  • PKD4

  • Polycystic Kidney Disease 4 With Or Without Hepatic Disease

  • Polycystic Kidney Disease, Infantile, Type I

  • Polycystic Kidney Disease, Infantile Type

  • Polycystic Kidney, Autosomal Recessive

  • Pkd3, Formerly

  • Polycystic Kidney Disease 4, With Or Without Hepatic Disease

  • Arpkd/Chf

  • Ar-Pkd

  • Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease

  • Infantile Polycystic Kidney Disease Type I

  • Pkd3

  • Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease

  • Polycystic Kidney Disease 3, Autosomal Dominant

Chromosome 2q35 Duplication Syndrome
  • Syndactyly

  • Syndactyly Type 1

  • Sdty1

  • Zygodactyly

  • Syndactyly, Type I

  • Sd1

  • Syndactyly, Type 1, With Or Without Craniosynostosis

  • Symphalangism

  • Non-Syndromic Syndactyly

  • Symphalangy

  • Webbing Of Digits

  • Syndactyly, Type 1

Cranioectodermal Dysplasia
  • Sensenbrenner Syndrome

  • Levin Syndrome 1

  • Ced

  • Levin Syndrome

  • Dysplasia, Cranioectodermal

Retinal Degeneration
  • Degeneration Of Retina

Acrocallosal Syndrome
  • ACLS

  • Schinzel Acrocallosal Syndrome

  • Joubert Syndrome 12

  • Schinzel Syndrome 1

  • Acrocallosal Syndrome, Schinzel Type

  • Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum

  • Acs

  • Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly

  • Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum

  • JBTS12

  • Acrocallosal Syndrome

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
  • Asphyxiating Thoracic Dystrophy 1

  • Jeune Syndrome

  • SRTD1

  • Atd1

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Jatd

  • Jeune Asphyxiating Thoracic Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Atd

  • Asphyxiating Thoracic Dystrophy

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune'S Syndrome

  • Thoracic Pelvic Phalangeal Dystrophy

  • Jeune Thoracic Dystrophy

Asphyxiating Thoracic Dystrophy
  • Jeune Thoracic Dystrophy

  • Jeune Syndrome

  • Asphyxiating Thoracic Dysplasia

  • Short-Rib Thoracic Dysplasia With Or Without Polydactyly

  • Thoracic Pelvic Phalangeal Dystrophy

  • Asphyxiating Thoracic Chondrodystrophy

  • Atd

  • Chondroectodermal Dysplasia-Like Syndrome

  • Infantile Thoracic Dystrophy

  • Jeune Thoracic Dysplasia

  • Thoracic Asphyxiant Dystrophy

  • Thoracic-Pelvic-Phalangeal Dystrophy

  • Short-Rib Thoracic Dysplasia Without Polydactyly

  • Asphyxiating Thoracic Dystrophy Of The Newborn

  • Asphyxiating Thorax Dystrophy

Heart Disease
  • Heart Failure

  • Congenital Heart Disease

  • Heart Diseases

  • Congenital Heart Defects

  • Congenital Heart Defect

  • Heart Malformation

  • Congenital Anomaly Of Heart

  • Heart Defect

  • Heart-Congenital Defect

  • Congenital Heart Disorder

  • Heart Defects Congenital

  • Heart Defects, Congenital

  • Heart Defects

  • Heart Disease, Congenital

  • Disease, Heart, Congenital

  • Congestive Heart Failure

Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
  • Majewski Syndrome

  • SRTD6

  • Srps2a

  • Short Rib-Polydactyly Syndrome, Majewski Type

  • Polydactyly With Neonatal Chondrodystrophy, Type Ii

  • Short Rib-Polydactyly Syndrome Type Iia

  • Short Rib-Polydactyly Syndrome Type 2

  • Short Rib-Polydactyly Syndrome Type Ii

  • Short Rib-Polydactyly Syndrome, Type Ii

  • Srps, Type Ii

  • Short Rib-Polydactyly Syndrome, Type Iia

  • Polydactyly With Neonatal Chondrodystrophy Type 2

  • Srps Type 2

  • Short Rib-Polydactyly Syndrome Majewski Type

  • Polydactyly With Neonatal Chondrodystrophy Type Ii

  • Short Rib-Polydactyly Syndrome 2a

  • Srps Type Ii

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

Osteogenesis Imperfecta, Type Iii
  • Osteogenesis Imperfecta Type Iii

  • OI3

  • Oi, Type Iii

  • Osteogenesis Imperfecta Type 3

  • Oi Type Iii

  • Oi Type 3

  • Progressive Deforming Osteogenesis Imperfecta

  • Severe Osteogenesis Imperfecta

  • Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclera

  • Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae

  • Progressively Deforming Oi

  • Osteogenesis Imperfecta 3

  • Oi-Iii

  • Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Polycystic Liver Disease
  • Autosomal Dominant Polycystic Liver Disease

  • Isolated Polycystic Liver Disease

  • Pcld

  • Congenital Cystic Liver Disease

  • Congenital Hepatic Cyst

  • Fibrocystic Liver Disease

  • Isolated Autosomal Dominant Polycystic Liver Disease

  • Adpcld

  • Liver Disease, Polycystic

  • Multiple Cysts Of Liver

  • Pld - [Polycystic Liver Disease]

  • Polycystic Liver Disorder

  • Polycystic Liver

  • Congenital Polycystic Disease Of Liver

  • Congenital Polycystic Liver Disease

Visceral Heterotaxy
  • Situs Ambiguus

  • Heterotaxia

  • Heterotaxy Syndrome

  • Heterotaxy

  • Lateralization Defect

  • Situs Ambiguous

  • Left Isomerism

  • Htx

  • Ivemark Syndrome

  • Right Isomerism

  • Situs Ambiguus Viscerum

  • Incomplete Situs Inversus

  • Partial Situs Inversus

  • Heterotaxy, Visceral

  • Asplenia Syndrome

  • Bilateral Left-Sidedness

  • Polysplenia Syndrome

  • Moller Syndrome

Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 1

  • PKD1

  • Adpkd

  • Polycystic Kidney Disease, Adult, Type I

  • Apkd1

  • Potter Type Iii Polycystic Kidney Disease

  • Polycystic Kidney Disease, Adult

  • Potter Type Iii Polycystic Kidney Disease, Formerly

  • Polycystic Kidney Disease, Type 1

  • Adpkd1

  • Adult Polycystic Kidney Disease Type 1

  • Autosomal Dominant Polycystic Kidney Disease 1

  • Pkd-1

  • Polycystic Kidney Disease Adult

  • Polycystic Kidney Disease Type I

  • Polycystic Kidneys

  • Polycystic Kidney Disease, Adult Type I

  • Polycystic Kidney Type 1 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 1

  • Polycystic Kidney, Autosomal Dominant

  • Polycystic Kidney, Type 1 Autosomal Dominant Disease

  • Polycystic Kidney Diseases

Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Adult Type

  • Adpkd

  • Polycystic Kidney Diseases

  • Polycystic Kidney, Autosomal Dominant

  • Congenital Biliary Ectasias

  • Polycystic Kidney And Hepatic Disease 1

  • Polycystic Kidney Disease, Autosomal Dominant

  • Kidney, Polycystic, Disease, Autosomal Dominant

  • Adult Polycystic Kidney Disease

  • Polycystic Kidney, Adult Type

  • Apckd - [Autosomal Polycystic Kidney Disease]

Situs Inversus
  • Situs Inversus Viscerum

  • Laterality Sequence

  • Complete Transposition

  • Siv

Polycystic Kidney Disease
  • Polycystic Kidney Diseases

  • Pkd

  • Polycystic Renal Disease

  • Kidney Disease, Polycystic

  • Polycystic Kidney, Autosomal Dominant

Fetal Akinesia Deformation Sequence 1
  • Fetal Akinesia Deformation Sequence

  • Fads

  • Fetal Akinesia Sequence

  • FADS1

  • Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome Type 1

  • Fetal Akinesia Deformation Sequence Syndrome

  • Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

  • Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome, Type I

  • Foetal Akinesia Deformation Sequence Syndrome

  • Foetal Akinesia Sequence

  • Fetal Akinesia Deformation Sequence Syndrome 1

  • Pena-Shokeir Syndrome, Type 1

  • Pena Shokeir Syndrome, Type 1

  • Akinesia, Fetal, Deformation Sequence

  • Akinesia, Fetal, Deformation Sequence, Type 1

  • Pena-Shokeir Syndrome Type I

Leber Plus Disease
  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Primary Ciliary Dyskinesia
  • Immotile Cilia Syndrome

  • Kartagener Syndrome

  • Dextrocardia Bronchiectasis And Sinusitis

  • Pcd

  • Ciliary Motility Disorders

  • Ciliary Motility Disorder

  • Immotile Ciliary Syndrome

  • Ciliary Dyskinesia Primary

  • Ics

  • Polynesian Bronchiectasis

  • Dextrocardia-Bronchiectasis-Sinusitis Syndrome

  • Immotile Cilia Syndrome, Kartagener Type

  • Primary Ciliary Dyskinesia And Situs Inversus

  • Primary Ciliary Dyskinesia, Kartagener Type

  • Siewert Syndrome

  • Dyskinesia, Ciliary, Primary

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

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

Orthologs Information

Species Symbol Source ID
Canis familiaris TMEM67 VGNC VGNC:47599
Felis catus TMEM67 VGNC VGNC:66358
Rattus norvegicus TMEM67 RGD RGD:1586167
Bos taurus TMEM67 VGNC VGNC:106983
Macaca mulatta TMEM67 VGNC VGNC:79708
Mus musculus TMEM67 MGD MGI:1923928