RAB7A - RAB7A, member RAS oncogene family Gene

Also Known as RAB7; CMT2B; PRO2706

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7879

About RAB7A

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:128,726,183-128,814,798 (from NCBI)

This gene has 18 transcripts (splice variants), 277 orthologues, 68 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 104.7), fat (RPKM 97.2) and 25 other tissues.

Summary

RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]

RAB7A Products (1)

mRNA Protein Name
NM_004637.6 NP_004628.4 ras-related protein Rab-7a
Molecular Function GO Annotation Evidence References Source
enables GDP binding IDA
IDA: Inferred from direct assay
18272684 GOA
enables GTP binding IDA
IDA: Inferred from direct assay
18272684 GOA
enables GTPase activity IDA
IDA: Inferred from direct assay
18272684 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14617358 GOA
enables retromer complex binding IMP
IMP: Inferred from mutant phenotype
27385586 GOA
Biological Process GO Annotation Evidence References Source
involved in autophagosome assembly IMP
IMP: Inferred from mutant phenotype
19956673 GOA
involved in early endosome to late endosome transport IMP
IMP: Inferred from mutant phenotype
14617358 GOA
involved in endosome to lysosome transport IMP
IMP: Inferred from mutant phenotype
18272684 GOA
involved in endosome to plasma membrane protein transport IMP
IMP: Inferred from mutant phenotype
33147445 GOA
involved in epidermal growth factor catabolic process IMP
IMP: Inferred from mutant phenotype
18272684 GOA
involved in intracellular transport IMP
IMP: Inferred from mutant phenotype
22042847 GOA
involved in negative regulation of exosomal secretion IMP
IMP: Inferred from mutant phenotype
26911690 GOA
involved in phagosome acidification IMP
IMP: Inferred from mutant phenotype
21255211 GOA
involved in phagosome-lysosome fusion IMP
IMP: Inferred from mutant phenotype
21255211 GOA
involved in positive regulation of exosomal secretion IMP
IMP: Inferred from mutant phenotype
22660413 GOA
involved in positive regulation of protein catabolic process IMP
IMP: Inferred from mutant phenotype
22072966 GOA
involved in positive regulation of viral process IMP
IMP: Inferred from mutant phenotype
22072966 GOA
involved in protein targeting to lysosome IMP
IMP: Inferred from mutant phenotype
22115783 GOA
involved in protein to membrane docking IDA
IDA: Inferred from direct assay
24344282 GOA
involved in response to bacterium IMP
IMP: Inferred from mutant phenotype
22042847 GOA
involved in retrograde transport, endosome to Golgi IMP
IMP: Inferred from mutant phenotype
19531583 GOA
involved in viral release from host cell IMP
IMP: Inferred from mutant phenotype
22072966 GOA
Cellular Component GO Annotation Evidence References Source
located in endosome membrane IDA
IDA: Inferred from direct assay
22431521 GOA
located in endosome membrane IMP
IMP: Inferred from mutant phenotype
26911690 GOA
colocalizes with late endosome IDA
IDA: Inferred from direct assay
18272684 GOA
located in late endosome IDA
IDA: Inferred from direct assay
14617358 GOA
colocalizes with lysosome IDA
IDA: Inferred from direct assay
18272684 GOA
located in lysosome IDA
IDA: Inferred from direct assay
15078902 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
34432599 GOA
located in phagocytic vesicle IDA
IDA: Inferred from direct assay
21255211 GOA
part of retromer complex IDA
IDA: Inferred from direct assay
19531583 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

RAB7A Protein Structure

Ras

Ras: Ras family (10 - 174)

  • 0
  • 100
  • 207 a.a.
Protein Preferred Names Protein Names

ras-related protein Rab-7a

  • RAB7, member RAS oncogene family

RAB7A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RAB7A P51149 RILP Homo sapiens Q96NA2 32814053
Intra
RAB7A P51149 RILP Homo sapiens Q96NA2 26496610
Intra
RAB7A P51149 RILP Homo sapiens Q96NA2 32814053
Intra
RAB7A P51149 RILP Homo sapiens Q96NA2 32814053
Intra
RAB7A P51149 PLEKHM1 Homo sapiens Q9Y4G2 28325809
Intra
RAB7A P51149 PLEKHM1 Homo sapiens Q9Y4G2 28325809
Intra
RAB7A P51149 PLEKHM1 Homo sapiens Q9Y4G2 28325809
Intra
RAB7A P51149 PLEKHM1 Homo sapiens Q9Y4G2 28325809
Cross: Cross-species interaction Intra: Intraspecies interaction

RAB7A Antibodies

Cat. No. Product Name Application Reactivity
HY-P80295 RAB7 Antibody (YA110) WB, IHC-P, ICC/IF, FC, IF-Tissue Human, Mouse, Rat
HY-P86520 RAB7 Antibody (YA6212) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2b
  • Charcot-Marie-Tooth Disease Type 2b

  • CMT2B

  • Hmsn Iib

  • Hmsn2b

  • Charcot-Marie-Tooth Disease, Type 2b

  • Hereditary Motor And Sensory Neuropathy Iib

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b

  • Charcot-Marie-Tooth Neuropathy Type 2b

  • Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b

  • Charcot-Marie-Tooth Neuropathy, Type 2b

  • Hereditary Motor And Sensory Nueropathy Iib

  • Cmt 2b

  • Charcot Marie Tooth Disease Type 2b

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2b

  • Hereditary Motor And Sensory Neuropathy 2 B

  • Peripheral Sensory Neuropathy, Autosomal Dominant

  • Charcot-Marie-Tooth Disease 2b

  • Charcot-Marie-Tooth Disease Axonal Type 2b

  • Charcot-Marie-Tooth Disease Neuronal Type 2b

  • Peripheral Sensory Neuropathy Autosomal Dominant

  • Psn

Q Fever
  • Infection Due To Coxiella Burnetii

  • Quadrilateral Fever

  • Query Fever

  • Nine Mile Fever

  • Coxiella Burnetii Fever

  • Q Fever Pneumonia

  • Coxiellosis

  • Pneumonia In Q Fever

  • Australian Q Fever

  • Balkan Grippe

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Osteopetrosis
  • Marble Bone Disease

  • Albers-Schonberg Disease

  • Osteopetroses

  • Marble Bones

  • Osteopetrosis And Related Disorders

  • Congenital Osteopetrosis

  • Marble Bone

  • Albers-Schoenberg Disease

  • Albers-Schonberg Osteopetrosis

  • Osteosclerosis Fragilis

  • Ivory Bones

Choroideremia
  • CHM

  • Tcd

  • Progressive Tapetochoroidal Dystrophy

  • Choroidal Sclerosis

  • Tapetochoroidal Dystrophy, Progressive

  • Progressive Choroidal Atrophy

  • Tapetochoroidal Dystrophy

Tooth Disease
  • Tooth Diseases

  • Teeth Disease

  • Tooth Disorders

Charcot-Marie-Tooth Disease, Axonal, Type 2e
  • Charcot-Marie-Tooth Disease Type 2

  • CMT2E

  • CMT2S

  • CMT2Y

  • Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease Axonal Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2s

  • Charcot-Marie-Tooth Disease, Type 2e

  • Hereditary Motor And Sensory Neuropathy Type 2

  • Charcot-Marie-Tooth Neuropathy, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

  • Charcot-Marie-Tooth Disease, Axonal, Type 2y

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

  • Charcot-Marie-Tooth Neuropathy, Type 2y

  • Charcot-Marie-Tooth Disease, Type 2y

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

  • Charcot-Marie-Tooth Neuropathy Type 2e

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

  • Cmt2 Due To Vcp Mutation

  • Charcot-Marie-Tooth Disease Type 2s

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

  • Cmt2

  • Charcot-Marie-Tooth Neuropathy, Type 2e

  • Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

  • Hereditary Motor And Sensory Neuropathy Okinawa Type

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

  • Charcot-Marie-Tooth Neuropathy Type 2y

  • Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

  • Charcot-Marie-Tooth Neuropathy Type 2s

  • Charcot-Marie-Tooth Type 2

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

  • Charcot-Marie-Tooth Disease 2e

  • Charcot-Marie-Tooth Disease Axonal Type 2e

  • Charcot-Marie-Tooth Disease Neuronal Type 2e

  • Charcot-Marie-Tooth Disease 2s

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2s

  • Charcot-Marie-Tooth Disease 2y

  • Charcot-Marie-Tooth Disease, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

Pontocerebellar Hypoplasia, Type 2e
  • Pontocerebellar Hypoplasia Type 2

  • Pontocerebellar Hypoplasia Type 2e

  • Pch2

  • PCH2E

  • Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

  • Pontocerebellar Hypoplasia 2e

  • Pcca2

  • Progressive Cerebello-Cerebral Atrophy Type 2

  • Doid:0112328

  • Hypoplasia, Pontocerebellar, Type 2e

  • Pontocerebellar Hypoplasia, Type 2d

  • Pontocerebellar Hypoplasia Type 2a

Rabies
  • Lyssa

  • Hydrophobia

  • St Hubert Disease

Charcot-Marie-Tooth Disease And Deafness
  • Charcot-Marie-Tooth Disease Type 1e

  • CMT1E

  • Charcot-Marie-Tooth Disease Type 1

  • Hereditary Motor And Sensory Neuropathy Type 1

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 1e

  • Charcot-Marie-Tooth Disease, Type I

  • Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant

  • Charcot-Marie-Tooth Disease, Type 1e

  • Charcot-Marie-Tooth Disease Demyelinating Type 1e

  • Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease

  • Cmt1

  • Charcot-Marie-Tooth Neuropathy Type 1

  • Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness

  • Charcot-Marie-Tooth Disease-Deafness

  • Charcot-Marie-Tooth Type 1

  • Hmsn1

  • Hereditary Motor And Sensory Neuropathy 1

  • Cmt 1e

  • Charcot Marie Tooth Disease Type 1e

  • Charcot-Marie-Tooth Disease-Deafness Syndrome

  • Charcot-Marie-Tooth Disease-Hearing Loss Syndrome

  • Charcot-Marie-Tooth Disease 1e

  • Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant

  • Charcot-Marie-Tooth Neuropathy Type 1e

  • Charcot-Marie-Tooth Disease, Type Ie

  • Hereditary Motor And Sensory Neuropathy Type I

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
  • Hsan1b

  • Hereditary Sensory Neuropathy Type 1b

  • Hsan With Cough And Gastroesophageal Reflux

  • Neuropathy, Hereditary Sensory And Autonomic, Type Ib

  • Neuropathy, Hereditary Sensory, Type Ib

  • Hsn1b

  • Hereditary Sensory Neuropathy Type Ib

  • Hereditary Sensory And Autonomic Neuropathy Type 1b

  • Hereditary Sensory And Autonomic Neuropathy Type 1 With Cough And Gastroesophageal Reflux

  • Hereditary Sensory And Autonomic Neuropathy Type Ib

  • Hereditary Sensory Neuropathy, Type Ib

Vici Syndrome
  • Absent Corpus Callosum Cataract Immunodeficiency

  • VICIS

  • Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum

  • Dionisi Vici Sabetta Gambarara Syndrome

  • Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum

  • Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome

  • Dionisi-Vici-Sabetta-Gambarara Syndrome

  • Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
  • Ftd3

  • Frontotemporal Dementia, Chromosome 3-Linked

  • Amyotrophic Lateral Sclerosis, Chmp2b-Related

  • Chromosome 3-Linked Frontotemporal Dementia

  • FTDALS7

  • Chmp2b-Related Frontotemporal Dementia

  • Amyotrophic Lateral Sclerosis 17, Formerly

  • Als17, Formerly

  • Amyotrophic Lateral Sclerosis Type 17

  • Dtm1

  • Ftd-3

  • Ftd-Chmp2b

  • Als17

  • Amyotrophic Lateral Sclerosis 17

  • Sclerosis, Lateral, Amyotrophic, Type 17

  • Dementia, Frontotemporal, Chromosome 3-Linked

Charcot-Marie-Tooth Disease, Axonal, Type 2l
  • Charcot-Marie-Tooth Disease Axonal Type 2l

  • CMT2L

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l

  • Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2l

  • Charcot-Marie-Tooth Disease 2l

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l

  • Charcot-Marie-Tooth Disease Neuronal Type 2l

  • Charcot-Marie-Tooth Neuropathy Type 2l

  • Charcot-Marie-Tooth Disease, Type 2l

  • Charcot-Marie-Tooth Disease, Type 2i

Hereditary Motor And Sensory Neuropathy, Type Iic
  • CMT2C

  • Charcot-Marie-Tooth Disease Axonal Type 2c

  • HMSN2C

  • Hmsn Iic

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c

  • Charcot-Marie-Tooth Neuropathy Type 2c

  • Hereditary Motor And Sensory Neuropathy Type Iic

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c

  • Charcot-Marie-Tooth Neuropathy, Type 2c

  • Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c

  • Charcot-Marie-Tooth Disease 2c

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c

  • Charcot-Marie-Tooth Disease, Type 2c

Charcot-Marie-Tooth Disease, Type 4j
  • Charcot-Marie-Tooth Disease Type 4j

  • CMT4J

  • Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j

  • Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j

  • Charcot-Marie-Tooth Disease 4j

Charcot-Marie-Tooth Disease, Dominant Intermediate B
  • CMTDIB

  • Charcot-Marie-Tooth Disease Dominant Intermediate B

  • Di-Cmtb

  • Cmtdi1

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m

  • Charcot-Marie-Tooth Neuropathy Dominant Intermediate B

  • CMT2M

  • Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B

  • Charcot-Marie-Tooth Disease, Axonal Type 2m

  • Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B

  • Charcot-Marie-Tooth Disease 2m

  • Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m

  • Charcot-Marie-Tooth Disease Axonal Type 2m

  • Charcot-Marie-Tooth Neuropathy Axonal Type 2m

  • Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B

  • Charcot-Marie-Tooth Disease, Axonal, Type 2m

  • Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Legionnaire Disease
  • Legionnaires' Disease

  • Legionnaires Disease

  • Legionnaire Disease, Susceptibility To

  • Legionella

  • Legionella Pneumonia

  • Infection By Legionella Pneumophilia

  • Legionnaire'S Disease

  • Legionellosis

  • Legionaire Disease, Susceptibility To

  • Legionnaires Pneumonia

Mucolipidosis Iv
  • Mucolipidosis Type Iv

  • ML4

  • Sialolipidosis

  • Mucolipidosis Type 4

  • Ganglioside Sialidase Deficiency

  • Mliv

  • Ml Iv

  • Berman Syndrome

  • Ganglioside Neuraminidase Deficiency

  • Ml 4

  • Mucolipidosis 4

  • Type Iv Mucolipidosis

  • Gangliosidoses

Legionellosis
  • Legionella Infection

  • Pontiac Fever

  • Legionnaires' Disease

  • Infection By Legionella Pneumophilia

  • Legionella Pneumophila Infection

Spinocerebellar Ataxia, Autosomal Recessive 15
  • Autosomal Recessive Spinocerebellar Ataxia 15

  • SCAR15

  • Salih Ataxia

  • Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency

  • Autosomal Recessive Spinocerebellar Ataxia Type 15

  • Spinocerebellar Ataxia, Autosomal Recessive, 15

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 15

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

Niemann-Pick Disease, Type C1
  • Niemann-Pick Disease, Type C

  • NPC1

  • Niemann-Pick Disease, Type D

  • Niemann-Pick Disease Type C1

  • Niemann-Pick Disease With Cholesterol Esterification Block

  • Niemann-Pick Disease, Subacute Juvenile Form

  • Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

  • Npc

  • Niemann-Pick Disease, Chronic Neuronopathic Form

  • Niemann-Pick Disease Without Sphingomyelinase Deficiency

  • Niemann-Pick Disease Type C

  • Niemann-Pick Disease Type D

  • Niemann-Pick C1 Disease

  • Niemann-Pick Disease C1

  • Niemann-Pick Disease Chronic Neuronopathic Form

  • Niemann-Pick Disease Nova Scotian Type

  • Niemann-Pick Disease Subacute Juvenile Form

  • Niemann-Pick Disease Type Ii

  • Niemann-Picks Disease Type C

Neuropathy, Hereditary Sensory, Type Id
  • HSN1D

  • Hereditary Sensory Neuropathy Type 1d

  • Neuropathy, Hereditary Sensory, Type 1d

  • Neuropathy, Hereditary Sensory, 1d

  • Hereditary Sensory Neuropathy Type Id

  • Neuropathy, Sensory, Hereditary, Type Id

Charcot-Marie-Tooth Disease, Type 4b2
  • Charcot-Marie-Tooth Disease Type 4b2

  • CMT4B2

  • Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

  • Charcot-Marie-Tooth Neuropathy, Type 4b2

  • Charcot-Marie-Tooth Neuropathy Type 4b2

  • Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

  • Cmt 4b2

  • Charcot Marie Tooth Disease Type 4b2

  • Charcot-Marie-Tooth Disease 4b2

  • Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

C Syndrome
  • Opitz Trigonocephaly Syndrome

  • Trigonocephaly

  • Trigonocephaly Syndrome

  • Trigonocephaly C Syndrome

  • Opitz C Trigonocephaly

  • Opitz Trigonocephaly C Syndrome

  • Otcs

  • CSYN

Cataract 44
  • CTRCT44

  • Total Early-Onset Cataract

  • Cataract 44 And Hypotrichosis

  • Cataract And Hypotrichosis

  • Cataract, Type 44

Warburg Micro Syndrome 1
  • Warburg Micro Syndrome

  • Micro Syndrome

  • Warbm

  • WARBM1

  • Warburg Sjo Fledelius Syndrome

  • Warburg-Sjo-Fledelius Syndrome

  • Micro Syndrome 1

  • Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Niemann-Pick Disease
  • Sphingomyelin/Cholesterol Lipidosis

  • Niemann-Pick Diseases

  • Lipoid Histiocytosis

  • Sphingomyelin Lipidosis

  • Sphingomyelinase Deficiency Disease

  • Lipid Histiocytosis

  • Neuronal Cholesterol Lipidosis

  • Neuronal Lipidosis

  • Npd

  • Sphingomyelinase Deficiency

  • Niemann-Pick Disease, Type A

Hereditary Sensory And Autonomic Neuropathy Type 1
  • Hereditary Sensory And Autonomic Neuropathy Type I

  • Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

  • Hsan1e

  • Hsan1

  • Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

  • Hsn1e

  • Hsnie

  • Hereditary Sensory Neuropathy Type Ie

  • Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

  • Hereditary Sensory And Autonomic Neuropathy Type Ie

  • Hereditary Sensory And Autonomic Neuropathy Type 1e

  • Hereditary Sensory Neuropathy With Hearing Loss And Dementia

  • Dnmt1-Complex Disorder

  • Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

  • Hsn Ie

  • Hereditary Sensory Autonomic Neuropathy, Type 1

  • Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Mucolipidosis
Neuronal Ceroid Lipofuscinosis
  • Hereditary Ceroid Lipofuscinosis

  • Batten Disease

  • Ncl

  • Neuronal Ceroid-Lipofuscinoses

  • Lipofuscinosis, Ceroid, Neuronal

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Cerebromacular Dystrophy

  • Cerebromacular Degeneration

  • Ceroid-Lipofuscinosis

  • Ncl - [Neuronal Ceroid Lipofuscinosis]

  • Amaurotic Familial Idiocy

  • Amaurotic Idiocy

  • Amaurotic Idiot

  • Neuronal Lipofuscinosis

  • Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Hypertrophic Neuropathy Of Dejerine-Sottas
  • Dejerine-Sottas Disease

  • Dejerine-Sottas Syndrome

  • Charcot-Marie-Tooth Disease Type 3

  • DSS

  • Hereditary Motor And Sensory Neuropathy Type Iii

  • Hmsn3

  • Dejerine-Sottas Neuropathy

  • Hmsn Iii

  • Charcot-Marie-Tooth Disease, Type 3

  • Cmt3

  • Dsn

  • Hmsn 3

  • Hereditary Motor And Sensory Neuropathy Type 3

  • Hereditary Motor And Sensory Neuropathy 3

  • Hypertrophic Neuropathy Of Infancy

  • Charcot-Marie-Tooth Disease Demyelinating Type 4f

  • Charcot-Marie-Tooth Disease Type 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Cmt4f

  • Hereditary Motor And Sensory Neuropathy Iii

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Hermansky-Pudlak Syndrome
  • Hps

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

  • Hermanski-Pudlak Syndrome

  • Hermansky Pudlak Syndrome

  • Platelet Storage Pool Deficiency

Hereditary Spastic Paraplegia
  • Familial Spastic Paraplegia

  • Hereditary Spastic Paraparesis

  • Strumpell-Lorrain Disease

  • Familial Spastic Paraparesis

  • Hsp

  • Spg

  • Strümpell-Lorrain Disease

  • Spastic Paraplegia, Hereditary

  • French Settlement Disease

  • Strumpell-Lorrain Syndrome

  • Fsp

  • Spastic Paraplegia, Familial

  • Spastic Paraplegia Hereditary

  • Spastic Paraplegia 3, Autosomal Dominant

  • Spastic Paraparesis

  • Hereditary Spastic Paralysis

  • Familial Spastic Paralysis

  • Hereditary Spastic Ataxia

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

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
Macaca mulatta RAB7A VGNC VGNC:81548
Canis familiaris RAB7A VGNC VGNC:45293
Rattus norvegicus RAB7A RGD RGD:61908
Mus musculus RAB7A MGD MGI:105068
Bos taurus RAB7A VGNC VGNC:33660
Others RAB7A NCBI