REEP1 - receptor accessory protein 1 Gene

Also Known as DSMA6; HMN5B; SPG31; Yip2a; C2orf23

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 65055

About REEP1

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,213,993-86,338,083 (from NCBI)

This gene has 22 transcripts (splice variants), 210 orthologues, 5 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 30.1), brain (RPKM 18.8) and 11 other tissues.

Summary

This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

REEP1 Products (8)

mRNA Protein Name
NM_001164730.2 NP_001158202.1 receptor expression-enhancing protein 1 isoform 1
NM_001164731.2 NP_001158203.1 receptor expression-enhancing protein 1 isoform 3
NM_001164732.2 NP_001158204.1 receptor expression-enhancing protein 1 isoform 4
NM_001371279.1 NP_001358208.1 receptor expression-enhancing protein 1 isoform 5
NM_001371280.1 NP_001358209.1 receptor expression-enhancing protein 1 isoform 6
NM_001410855.1 NP_001397784.1 receptor expression-enhancing protein 1 isoform 7
NM_001410856.1 NP_001397785.1 receptor expression-enhancing protein 1 isoform 8
NM_022912.3 NP_075063.1 receptor expression-enhancing protein 1 isoform 2
Molecular Function GO Annotation Evidence References Source
enables microtubule binding IDA
IDA: Inferred from direct assay
20200447 GOA
enables olfactory receptor binding IMP
IMP: Inferred from mutant phenotype
15550249 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20200447 GOA
Biological Process GO Annotation Evidence References Source
involved in endoplasmic reticulum tubular network organization IMP
IMP: Inferred from mutant phenotype
20200447 GOA
involved in protein insertion into membrane IDA
IDA: Inferred from direct assay
15550249 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
15550249 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
20200447 GOA
located in membrane IDA
IDA: Inferred from direct assay
20200447 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

REEP1 Protein Structure

TB2_DP1_HVA22

TB2_DP1_HVA22: TB2/DP1, HVA22 family (5 - 95)

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

receptor expression-enhancing protein 1

  • spastic paraplegia 31 protein

REEP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
REEP1 Q9H902 TMEM100 Homo sapiens Q9NV29 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spastic Paraplegia 31, Autosomal Dominant
  • SPG31

  • Hereditary Spastic Paraplegia 31

  • Spastic Paraplegia 31

  • Autosomal Dominant Spastic Paraplegia 31

  • Autosomal Dominant Spastic Paraplegia Type 31

  • Spastic Paraplegia Type 31

  • Paraplegia, Spastic, Autosomal Dominant, Type 31

Neuronopathy, Distal Hereditary Motor, Type Vb
  • HMN5B

  • Hmn Vb

  • Dhmn5b

  • Dhmn Vb

  • Dsmavb

  • Neuronopathy, Distal Hereditary Motor, Type 5b

  • Neuropathy, Distal Hereditary Motor, Type Vb

  • Spinal Muscular Atrophy, Distal, Type Vb

  • Distal Hereditary Motor Neuronopathy Type 5b

  • Distal Hmn Vb

  • Distal Spinal Muscular Atrophy Type Vb

  • Neuronopathy, Distal Hereditary Motor, 5b

  • Distal Hereditary Motor Neuropathy Type Vb

  • Spinal Muscular Atrophy Distal Type Vb

  • Neuropathy, Motor, Distal, Hereditary, Type Vb

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
  • DSMA6

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

Neuronopathy, Distal Hereditary Motor, Type Va
  • Dsmav

  • Distal Hereditary Motor Neuropathy Type V

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

  • Neuronopathy, Distal Hereditary Motor, Type V

  • Distal Hereditary Motor Neuronopathy Type 5

  • Dhmn5

  • Distal Spinal Muscular Atrophy Type 5

  • HMN5A

  • Hmn5

  • Dhmn5a

  • Dhmn Va

  • Dsmava

  • Spinal Muscular Atrophy, Distal, With Upper Limb Predominance

  • Distal Hmn V

  • Autosomal Recessive Distal Spinal Muscular Atrophy Type 5

  • Dsma5

  • Young Adult-Onset Dhmn

  • Dhmn-V

  • Hmn V

  • Neuronopathy, Distal Hereditary Motor, Type 5a

  • Hmn 5a

  • Neuropathy, Distal Hereditary Motor, Type Va

  • Spinal Muscular Atrophy, Distal, Type Va

  • Spinal Muscular Atrophy, Distal, Type V

  • Distal Spinal Muscular Atrophy Type V

  • Distal Spinal Muscular Atrophy With Upper Limb Predominance

  • Distal Hereditary Motor Neuronopathy Type 5a

  • Distal Hmn Va

  • Distal Spinal Muscular Atrophy Type Va

  • Distal Hereditary Motor Neuropathy, Type V

  • Distal Hereditary Motor Neuronopathy, Type V

  • Distal Spinal Muscular Atrophy, Type V

  • Spinal Muscular Atrophy, Distal Type V

  • Distal Hereditary Motor Neuropathy Type 5

  • Neuronopathy, Distal Hereditary Motor, 5a

  • Dhmn V

  • Distal Hereditary Motor Neuronopathy Type Va

  • Distal Hereditary Motor Neuropathy Type Va

  • Dsma-V

  • Hmn Va

  • Spinal Muscular Atrophy Distal Type V

  • Spinal Muscular Atrophy Distal Type Va

  • Spinal Muscular Atrophy Distal With Upper Limb Predominance

  • Neuropathy, Distal Hereditary Motor, Type V

  • Neuropathy, Motor, Distal, Hereditary, Type Va

Paraplegia
  • Paraplegia, Lower

  • Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Hereditary Spastic Paraplegia 30
  • Autosomal Spastic Paraplegia Type 30

  • Spg30

  • Autosomal Recessive Spastic Paraplegia 30

Spastic Paraplegia 26, Autosomal Recessive
  • SPG26

  • Hereditary Spastic Paraplegia 26

  • Autosomal Recessive Spastic Paraplegia Type 26

  • Gm2 Synthase Deficiency

  • Spastic Paraplegia 26

  • Autosomal Recessive Spastic Paraplegia 26

  • Paraplegia, Spastic, Autosomal Recessive, Type 26

Spastic Paraplegia 18, Autosomal Recessive
  • SPG18

  • Idmdc

  • Hereditary Spastic Paraplegia 18

  • Intellectual Disability, Motor Dysfunction, And Joint Contractures

  • Autosomal Recessive Spastic Paraplegia Type 18

  • Autosomal Recessive Spastic Paraplegia 18

  • Intellectual Disability, Motor Dysfunction And Joint Contractures

  • Spastic Paraplegia 18

  • Intellectual Disability Motor Dysfunction And Joint Contractures

  • Paraplegia, Spastic, Type 18

Spastic Paraplegia 61, Autosomal Recessive
  • SPG61

  • Hereditary Spastic Paraplegia 61

  • Autosomal Recessive Spastic Paraplegia Type 61

  • Autosomal Recessive Spastic Paraplegia 61

  • Paraplegia, Spastic, Type 61, Autosomal Recessive

Spastic Paraplegia 42, Autosomal Dominant
  • SPG42

  • Hereditary Spastic Paraplegia 42

  • Autosomal Dominant Spastic Paraplegia Type 42

  • Autosomal Dominant Spastic Paraplegia 42

  • Paraplegia, Spastic, Type 42, Autosomal Dominant

Spastic Paraplegia 78, Autosomal Recessive
  • SPG78

  • Autosomal Recessive Spastic Paraplegia Type 78

  • Hereditary Spastic Paraplegia 78

  • Spastic Paraplegia 78 Autosomal Recessive

  • Doid:0112348

Masa Syndrome
  • L1 Syndrome

  • Crash Syndrome

  • X-Linked Hydrocephalus Syndrome

  • SPG1

  • Gareis-Mason Syndrome

  • Spastic Paraplegia 1, X-Linked

  • Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

  • L1cam Syndrome

  • Spastic Paraplegia 1

  • Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs

  • Clasped Thumb And Mental Retardation

  • Thumb, Congenital Clasped, With Mental Retardation

  • Adducted Thumb With Mental Retardation

  • Hereditary Spastic Paraplegia 1

  • X-Linked Complicated Hereditary Spastic Paraplegia Type 1

  • X-Linked Corpus Callosum Agenesis

  • X-Linked Spastic Paraplegia 1

  • L1 Disease

  • X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis

  • Adducted Thumb With Intellectual Disability

  • Clasped Thumb And Intellectual Disability

  • Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs

  • Thumb Congenital Clasped With Intellectual Disability

  • X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome

  • Adducted Thumbs-Mental Retardation Syndrome

  • Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

  • Mental Retardation-Clasped Thumb Syndrome

  • Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

  • Spastic Paraplegia Type 1, X-Linked

  • MASA

  • Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

  • Crash

  • Masa Syndrome

Motor Peripheral Neuropathy
  • Motor Neuritis

  • Peripheral Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathy

  • Hsmn

  • Hsmn - Hereditary Sensory And Motor Neuropathy

  • Neuropathic Muscular Atrophy

  • Hereditary Sensory And Motor Neuropathy

  • Hereditary Motor And Sensory Neuropathies

Spastic Paraplegia 57, Autosomal Recessive
  • SPG57

  • Hereditary Spastic Paraplegia 57

  • Autosomal Recessive Spastic Paraplegia Type 57

  • Autosomal Recessive Spastic Paraplegia 57

  • Spastic Paraplegia Due To Partial Tfg Deficiency

  • Paraplegia, Spastic, Type 57, Autosomal Recessive

Spastic Paraplegia 75, Autosomal Recessive
  • SPG75

  • Hereditary Spastic Paraplegia 75

  • Autosomal Recessive Spastic Paraplegia Type 75

  • Autosomal Recessive Spastic Paraplegia 75

Spastic Paraplegia 13, Autosomal Dominant
  • SPG13

  • Hereditary Spastic Paraplegia 13

  • Autosomal Dominant Spastic Paraplegia 13

  • Spastic Paraplegia 13

  • Autosomal Dominant Spastic Paraplegia Type 13

  • Spastic Paraplegia-13

  • Paraplegia, Spastic, Type 13

Spastic Paraplegia 10, Autosomal Dominant
  • SPG10

  • Hereditary Spastic Paraplegia 10

  • Autosomal Dominant Spastic Paraplegia Type 10

  • Spastic Paraplegia 10

  • Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

  • Autosomal Dominant Spastic Paraplegia 10

  • Autosomal Dominant Spastic Paraplegia

  • Spastic Paraplegia, Autosomal Dominant

  • Paraplegia, Spastic, Autosomal Dominant, Type 10

Spastic Paraplegia 2, X-Linked
  • SPG2

  • Hereditary Spastic Paraplegia 2

  • Sppx2

  • Spastic Paraplegia Type 2

  • Spastic Paraplegia 2

  • Hereditary X-Linked Recessive Spastic Paraplegia

  • X-Linked Spastic Paraplegia 2

  • X Linked Recessive Hereditary Spastic Paraplegia

  • Spastic Gait Type 2

  • Spastic Paraparesis Type 2

  • X-Linked Spastic Paraplegia Type 2

  • Spastic Paraplegia Type 2, X-Linked

  • Spastic Paraplegia-2

  • Paraplegia, Spastic, Type 2

Neuropathy, Hereditary Sensory, Type Iic
  • HSN2C

  • Hereditary Sensory Neuropathy Type 2c

  • Hereditary Sensory Neuropathy Type Iic

  • Neuropathy, Hereditary Sensory, Type 2c

  • Neuropathy, Hereditary Sensory, 2c

  • Hsn Iice

  • Neuropathy, Sensory, Hereditary, Type Iic

Spastic Paraplegia 17, Autosomal Dominant
  • Silver Syndrome

  • SPG17

  • Silver Spastic Paraplegia Syndrome

  • Spastic Paraplegia With Amyotrophy Of Hands And Feet

  • Hereditary Spastic Paraplegia 17

  • Autosomal Dominant Spastic Paraplegia Type 17

  • Spastic Paraplegia 17

  • Spastic Paraplegia-Amyotrophy Of Hands And Feet

  • Autosomal Dominant Spastic Paraplegia 17

  • Dhmn5b

  • Distal Hereditary Motor Neuropathy Type 5b

  • Paraplegia, Spastic, Autosomal Dominant, Type 17

  • Russell-Silver Syndrome

  • Neuronopathy, Distal Hereditary Motor, Type Vb

Spastic Paraplegia 73, Autosomal Dominant
  • SPG73

  • Hereditary Spastic Paraplegia 73

  • Autosomal Dominant Spastic Paraplegia Type 73

  • Autosomal Dominant Spastic Paraplegia 73

  • Paraplegia, Spastic, Autosomal Dominant, Type 73

Spastic Paraplegia 62, Autosomal Recessive
  • SPG62

  • Hereditary Spastic Paraplegia 62

  • Autosomal Recessive Spastic Paraplegia Type 62

  • Spastic Paraplegia 62

  • Autosomal Recessive Spastic Paraplegia 62

  • Paraplegia, Spastic, Type 62

Spastic Ataxia 2
Spastic Paraplegia 3, Autosomal Dominant
  • SPG3A

  • Strumpell Disease

  • Hereditary Spastic Paraplegia 3a

  • SPG3

  • Fsp1

  • Autosomal Dominant Spastic Paraplegia Type 3

  • Familial Spastic Paraplegia, Autosomal Dominant, 1

  • Spastic Paraplegia 3a, Autosomal Dominant

  • Autosomal Dominant Familial Spastic Paraplegia 1

  • Autosomal Dominant Spastic Paraplegia 3

  • Spastic Paraplegia 3

  • Familial Spastic Paraplegia Autosomal Dominant 1

  • Strumpell-Lorrain Syndrome

  • Paraplegia, Spastic, Autosomal Dominant, Type 3a

  • Spastic Paraplegia, Hereditary

Spastic Paraplegia 54, Autosomal Recessive
  • SPG54

  • Hereditary Spastic Paraplegia 54

  • Autosomal Recessive Spastic Paraplegia Type 54

  • Autosomal Recessive Spastic Paraplegia 54

  • Paraplegia, Spastic, Type 54, Autosomal Recessive

Spastic Paraplegia 9a, Autosomal Dominant
  • Hereditary Spastic Paraplegia 9a

  • SPG9A

  • Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities

  • Ad-Spg9a

  • Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome

  • Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux

  • Autosomal Dominant Complex Spastic Paraplegia Type 9a

  • Autosomal Dominant Spastic Paraplegia 9a

  • Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

  • Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities

  • Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux

  • Autosomal Dominant Spastic Paraplegia Type 9a

  • Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome

  • Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux

  • Spastic Paraplegia 9, Autosomal Dominant

Spastic Paraplegia 15, Autosomal Recessive
  • SPG15

  • Kjellin Syndrome

  • Hereditary Spastic Paraplegia 15

  • Spastic Paraplegia And Retinal Degeneration

  • Autosomal Recessive Spastic Paraplegia Type 15

  • Hereditary Spastic Paraparesis Type 15

  • Spastic Paraplegia-Retinal Degeneration Syndrome

  • Autosomal Recessive Spastic Paraplegia 15

Hereditary Spastic Paraplegia 35
  • Autosomal Recessive Spastic Paraplegia Type 35

  • Spg35

  • Autosomal Recessive Spastic Paraplegia 35

  • Fahn

  • Fatty Acid Hydroxylase-Associated Neurodegeneration

  • Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia

Spastic Paraplegia 4, Autosomal Dominant
  • SPG4

  • Hereditary Spastic Paraplegia 4

  • Fsp2

  • Autosomal Dominant Spastic Paraplegia Type 4

  • Familial Spastic Paraplegia, Autosomal Dominant, 2

  • Autosomal Dominant Spastic Paraplegia 4

  • Familial Spastic Paraplegia Autosomal Dominant 2

  • Paraplegia, Spastic, Autosomal Dominant, Type 4

Autosomal Dominant Distal Hereditary Motor Neuronopathy
  • Autosomal Dominant Distal Hereditary Motor Neuropathy

  • Autosomal Dominant Dhmn

  • Autosomal Dominant Distal Spinal Muscular Atrophy

Spastic Paraplegia 12, Autosomal Dominant
  • SPG12

  • Hereditary Spastic Paraplegia 12

  • Autosomal Dominant Spastic Paraplegia Type 12

  • Autosomal Dominant Spastic Paraplegia 12

  • Spastic Paraplegia 12

  • Spastic Paraplegia-12

  • Paraplegia, Spastic, Autosomal Dominant, Type 12

Autosomal Recessive Distal Hereditary Motor Neuronopathy
  • Autosomal Recessive Distal Spinal Muscular Atrophy

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
  • Smard1

  • DSMA1

  • Sianrf

  • Dhmn6

  • Spinal Muscular Atrophy With Respiratory Distress 1

  • HMN6

  • Severe Infantile Axonal Neuropathy With Respiratory Failure

  • Autosomal Recessive Distal Spinal Muscular Atrophy 1

  • Diaphragmatic Spinal Muscular Atrophy

  • Spinal Muscular Atrophy With Respiratory Distress Type 1

  • Neuronopathy, Distal Hereditary Motor, Type Vi

  • Hmn Vi

  • Neuronopathy, Severe Infantile Axonal, With Respiratory Failure

  • Distal Spinal Muscular Atrophy 1

  • Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress

  • Distal Hereditary Motor Neuropathy Type 6

  • Distal-Hmn Type 6

  • Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1

  • Spinal Muscular Atrophy, Diaphragmatic

  • Distal Hereditary Motor Neuronopathy Type Vi

  • Distal Spinal Muscular Atrophy Type 1

  • Hmnvi

  • Spinal Muscular Atrophy With Respiratory Distress

  • Autosomal Recessive Distal Spinal Muscular Atrophy Type 1

  • Neuronopathy, Distal Hereditary Motor, 6

  • Dhmn Vi

  • Distal Hereditary Motor Neuropathy Type Vi

  • Severe Infantile Axonal Neuronopathy With Respiratory Failure

  • Spinal Muscular Atrophy Distal Autosomal Recessive 1

  • Atrophy, Muscular, Spinal, Distal, Type 1

Spastic Paraplegia 19, Autosomal Dominant
  • SPG19

  • Hereditary Spastic Paraplegia 19

  • Autosomal Dominant Spastic Paraplegia Type 19

  • Autosomal Dominant Spastic Paraplegia 19

  • Spastic Paraplegia 19

  • Spastic Paraplegia-19

Nescav Syndrome
  • NESCAVS

  • Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment

  • Mrd9

  • Intellectual Disability, Autosomal Dominant 9

  • Mental Retardation, Autosomal Dominant 9, Formerly

  • Mrd9, Formerly

  • Autosomal Dominant Intellectual Disability 9

  • Autosomal Dominant Non-Syndromic Intellectual Disability 9

  • Mental Retardation, Autosomal Dominant 9

Spastic Paraplegia 20, Autosomal Recessive
  • Troyer Syndrome

  • SPG20

  • Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting

  • Spastic Paraplegia, Autosomal Recessive, Troyer Type

  • Autosomal Recessive Spastic Paraplegia Type 20

  • Autosomal Recessive Hereditary Spastic Paraplegia

  • Spastic Paraplegia 20

  • Cross-Mckusick Syndrome

  • Autosomal Recessive Spastic Paraplegia 20

  • Autosomal Recessive Spastic Paraplegia Troyer Type

  • Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting

  • Hereditary Spastic Paraplegia 20

  • Spastic Paraplegia Type 20

  • Hereditary Spastic Paraplegia

  • Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome

  • Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting

  • Spastic Paraplegia Autosomal Recessive Troyer Type

  • Trs

  • Spastic Paraplegia Hereditary Autosomal Recessive

  • Spastic Paraplegia, Hereditary

Distal Hereditary Motor Neuronopathy Type 7
  • Dhmn7

  • Dhmnvpy

  • Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Muscular Atrophy
  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy

Arthrogryposis, Distal, Type 10
  • DA10

  • Distal Arthrogryposis Type 10

  • Short Achilles Tendon

  • Plantar Flexion Contracture

  • Short Tendo Calcaneus

  • Congenital Plantar Contractures

  • Tendo Calcaneus, Short

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

Distal Hereditary Motor Neuronopathy Type 2
  • Distal Hereditary Motor Neuropathy, Type Ii

  • Distal Hereditary Motor Neuropathy Type 2

  • Distal Hereditary Motor Neuropathy Type Ii

  • Hmn Ii

  • Hmn2

  • Distal Hereditary Motor Neuronopathy, Type Ii

  • Distal Spinal Muscular Atrophy Type 2

  • Dhmn2

  • Dsma2

  • Neuropathy, Motor, Distal, Hereditary, Type Ii

  • Spinal Muscular Atrophy, Jerash Type

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

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

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular 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
Felis catus REEP1 VGNC VGNC:64562
Rattus norvegicus REEP1 RGD RGD:1305230
Macaca mulatta REEP1 VGNC VGNC:106207
Bos taurus REEP1 VGNC VGNC:33851
Mus musculus REEP1 MGD MGI:1098827
Canis familiaris REEP1 VGNC VGNC:45460
Others REEP1 NCBI