KIF1A - kinesin family member 1A Gene

Also Known as ATSV; MRD9; HSN2C; SPG30; UNC104; C2orf20; NESCAVS

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 547

About KIF1A

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:240,713,767-240,821,403 (from NCBI)

This gene has 52 transcripts (splice variants), 210 orthologues, 41 paralogues and is associated with 10 phenotypes. Biased expression in brain (RPKM 88.6), adrenal (RPKM 8.2) and 1 other tissue.

Summary

The protein encoded by this gene is a member of the Kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

KIF1A Products (24)

mRNA Protein Name
NM_001244008.2 NP_001230937.1 kinesin-like protein KIF1A isoform 1
NM_001320705.2 NP_001307634.1 kinesin-like protein KIF1A isoform 3
NM_001330289.2 NP_001317218.1 kinesin-like protein KIF1A isoform 4
NM_001330290.2 NP_001317219.1 kinesin-like protein KIF1A isoform 5
NM_001379631.1 NP_001366560.1 kinesin-like protein KIF1A isoform 6
NM_001379632.1 NP_001366561.1 kinesin-like protein KIF1A isoform 7
NM_001379633.1 NP_001366562.1 kinesin-like protein KIF1A isoform 8
NM_001379634.1 NP_001366563.1 kinesin-like protein KIF1A isoform 9
NM_001379635.1 NP_001366564.1 kinesin-like protein KIF1A isoform 10
NM_001379636.1 NP_001366565.1 kinesin-like protein KIF1A isoform 11
NM_001379637.1 NP_001366566.1 kinesin-like protein KIF1A isoform 12
NM_001379638.1 NP_001366567.1 kinesin-like protein KIF1A isoform 13
NM_001379639.1 NP_001366568.1 kinesin-like protein KIF1A isoform 14
NM_001379640.1 NP_001366569.1 kinesin-like protein KIF1A isoform 15
NM_001379641.1 NP_001366570.1 kinesin-like protein KIF1A isoform 16
NM_001379642.1 NP_001366571.1 kinesin-like protein KIF1A isoform 17
NM_001379645.1 NP_001366574.1 kinesin-like protein KIF1A isoform 8
NM_001379646.1 NP_001366575.1 kinesin-like protein KIF1A isoform 10
NM_001379648.1 NP_001366577.1 kinesin-like protein KIF1A isoform 19
NM_001379649.1 NP_001366578.1 kinesin-like protein KIF1A isoform 18
NM_001379650.1 NP_001366579.1 kinesin-like protein KIF1A isoform 2
NM_001379651.1 NP_001366580.1 kinesin-like protein KIF1A isoform 2
NM_001379653.1 NP_001366582.1 kinesin-like protein KIF1A isoform 2
NM_004321.8 NP_004312.2 kinesin-like protein KIF1A isoform 2
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
22863567 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 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

KIF1A Protein Structure

Kinesin

Kinesin: Kinesin motor domain (11 - 354)

FHA

FHA: FHA domain (517 - 587)

KIF1B

KIF1B: Kinesin protein 1B (805 - 851)

DUF3694

DUF3694: Kinesin protein (1149 - 1296)

PH

PH: PH domain (1577 - 1670)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1690 a.a.
Protein Preferred Names Protein Names

kinesin-like protein KIF1A

  • axonal transporter of synaptic vesicles

KIF1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KIF1A Q12756 KIF1B Homo sapiens O60333-2 32814053
Intra
KIF1A Q12756 KIF1B Homo sapiens O60333-2 32814053
Intra
KIF1A Q12756 KIF1B Homo sapiens O60333-2 32814053
Intra
KIF1A Q12756 CTSD Homo sapiens P07339 32814053
Intra
KIF1A Q12756 CTSD Homo sapiens P07339 32814053
Intra
KIF1A Q12756 CTSD Homo sapiens P07339 32814053
Intra
KIF1A Q12756 WFS1 Homo sapiens O76024 32814053
Intra
KIF1A Q12756 KIF1A Homo sapiens Q12756 22863567
Intra
KIF1A Q12756 SPRED1 Homo sapiens Q7Z699 32814053
Intra
KIF1A Q12756 TTR Homo sapiens P02766 32814053
Intra
KIF1A Q12756 SPRED1 Homo sapiens Q7Z699 32814053
Intra
KIF1A Q12756 TTR Homo sapiens P02766 32814053
Intra
KIF1A Q12756 KIF1A Homo sapiens Q12756 22863567
Intra
KIF1A Q12756 KIF1A Homo sapiens Q12756 15014437
Intra
KIF1A Q12756 KIF1A Homo sapiens Q12756 22863567
Intra
KIF1A Q12756 TTR Homo sapiens P02766 32814053
Intra
KIF1A Q12756 WFS1 Homo sapiens O76024 32814053
Intra
KIF1A Q12756 SPRED1 Homo sapiens Q7Z699 32814053
Intra
KIF1A Q12756 KIF1A Homo sapiens Q12756
GMS
22863567
Intra
KIF1A Q12756 WFS1 Homo sapiens O76024 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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 30, Autosomal Dominant
  • Spastic Paraplegia 30, Autosomal Recessive

  • SPG30

  • Spastic Paraplegia 30

  • Paraplegia, Spastic, Type 30, Autosomal Recessive

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

Hereditary Spastic Paraplegia 30
  • Autosomal Spastic Paraplegia Type 30

  • Spg30

  • Autosomal Recessive Spastic Paraplegia 30

Neuropathy, Hereditary Sensory And Autonomic, Type Iia
  • Hereditary Sensory And Autonomic Neuropathy Type 2

  • Hsan2

  • HSAN2A

  • Morvan Disease

  • Hereditary Sensory And Autonomic Neuropathy Type Ii

  • Neurogenic Acroosteolysis

  • Hsan Iia

  • Hsn2a

  • Hsn Iia

  • Neuropathy, Progressive Sensory, Of Children

  • Neuropathy, Congenital Sensory

  • Neuropathy, Hereditary Sensory And Autonomic, Type Ii

  • Hereditary Sensory And Autonomic Neuropathy Type 2a

  • Hereditary Sensory And Autonomic Neuropathy Type Iia

  • Hsanii

  • Congenital Sensory Neuropathy

  • Hsan Type Ii

  • Morvan Syndrome

  • Neuropathy, Hereditary Sensory And Autonomic, Type 2a

  • Morvan'S Disease

  • Neuropathy, Hereditary Sensory, Type Iia

  • Acroosteolysis, Neurogenic

  • Acroosteolysis, Giaccai Type

  • Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

  • Hereditary Sensory Autonomic Neuropathy Type 2

  • Giaccai Type Acroosteolysis

  • Hereditary Sensory Neuropathy Type 2

  • Hereditary Sensory Radicular Neuropathy, Recessive Form

  • Hsan2b

  • Hsan2c

  • Hsan2d

  • Hsn Type Ii

  • Autosomal Recessive Sensory Radicular Neuropathy

  • Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

  • Morvan Fibrillary Chorea

  • Neuropathy, Hereditary Sensory And Autonomic, 2a

  • Acroosteolysis Giaccai Type

  • Hereditary Sensory Neuropathy Type Iia

  • Hereditary Sensory Radicular Neuropathy Autosomal Recessive

  • Progressive Sensory Neuropathy Of Children

  • Neuropathy Congenital Sensory

  • Charcot-Marie-Tooth Disease

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

  • Hereditary Sensory Autonomic Neuropathy, Type 2

  • Hereditary Motor And Sensory-Neuropathy Type Ii

  • Sensory Neuropathy, Hereditary

  • Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Peho Syndrome
  • Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy

  • Infantile Cerebellooptic Atrophy

  • PEHO

  • Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy

  • Progressive Encephalopathy-Optic Atrophy Syndrome

Syndromic Intellectual Disability
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

Autosomal Dominant Non-Syndromic Intellectual Disability
Kif1a-Associated Neurological Disorder
Paraplegia
  • Paraplegia, Lower

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

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

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Hereditary Sensory Neuropathy
  • Hereditary Sensory And Autonomic Neuropathy

  • Hereditary Sensory And Autonomic Neuropathies

  • Familial Dysautonomia, Type Ii

  • Hsan

  • Sensory Neuropathy Hereditary

  • Neuropathy, Sensory And Autonomic, Hereditary

  • Neuropathy, Sensory, Hereditary

  • Sensory Neuropathy, Hereditary

  • Charcot-Marie-Tooth Disease

  • Cmt - [Charcot-Marie-Tooth Disease]

Spasticity
Hypomagnesemia 6, Renal
  • Renal Hypomagnesemia 6

  • HOMG6

  • Renal Hypomagnesemia-6

  • Hypomagnesemia 6

  • Hypomagnesemia, Type 6, Renal

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 81, Autosomal Recessive
  • SPG81

  • Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction

  • Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction

  • Hereditary Spastic Paraplegia 81

  • Spastic Paraplegia 81 Autosomal Recessive

  • Doid:0112349

Neuropathy, Hereditary Sensory And Autonomic, Type Viii
  • HSAN8

  • Hsan Viii

  • Hereditary Sensory And Autonomic Neuropathy Type 8

  • Hereditary Sensory And Autonomic Neuropathy Type Viii

  • Neuropathy, Hereditary Sensory And Autonomic, 8

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Viii

Goldberg-Shprintzen Syndrome
  • Goldberg-Shprintzen Megacolon Syndrome

  • GOSHS

  • Megacolon-Microcephaly Syndrome

Spastic Ataxia 2
Chromosome 2q37 Deletion Syndrome
  • Albright Hereditary Osteodystrophy-Like Syndrome

  • 2q37 Microdeletion Syndrome

  • Brachydactyly-Intellectual Disability Syndrome

  • Deletion 2q37

  • 2q37 Deletion Syndrome

  • Brachydactyly-Mental Retardation Syndrome

  • Bdmr

  • Albright Hereditary Osteodystrophy Type 3

  • Del(2)(Q37)

  • Monosomy 2q37qter

  • Albright'S Hereditary Osteodystrophy-Like Syndrome

  • Monosomy 2q37

  • Chromosome Deletion Syndrome 2q37

Neuropathy, Hereditary Sensory And Autonomic, Type Vii
  • Hereditary Sensory And Autonomic Neuropathy Type 7

  • HSAN7

  • Hereditary Sensory And Autonomic Neuropathy Type Vii

  • Hsan Vii

  • Cip With Hyperhidrosis And Gastrointestinal Dysfunction

  • Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction

  • Hsan With Hyperhidrosis And Gastrointestinal Dysfunction

  • Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction

  • Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis

  • Neuropathy, Hereditary Sensory And Autonomic, 7

  • Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Vii

Charcot-Marie-Tooth Disease, Axonal, Type 2a1
  • CMT2A1

  • Charcot-Marie-Tooth Disease Type 2a1

  • Hereditary Motor And Sensory Neuropathy Iia1

  • Hmsn Iia1

  • Hmsn2a1

  • Charcot-Marie-Tooth Disease, Type 2a1

  • Charcot-Marie-Tooth Disease Neuronal Type 2a1

  • Charcot-Marie-Tooth Neuropathy Type 2a1

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1

  • Charcot-Marie-Tooth Disease, Neuronal, Type 2a1

  • Charcot-Marie-Tooth Neuropathy, Type 2a1

  • Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1

  • Charcot-Marie-Tooth Disease 2a1

  • Charcot-Marie-Tooth Disease Axonal Type 2a1

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

Neuropathy, Hereditary Sensory And Autonomic, Type V
  • HSAN5

  • Hereditary Sensory And Autonomic Neuropathy Type V

  • Hsan V

  • Hereditary Sensory And Autonomic Neuropathy Type 5

  • Congenital Insensitivity To Pain

  • Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers

  • Hsan Type V

  • Insensitivity To Pain, Congenital

  • Hereditary Sensory And Autonomic Neuropathy, Type 5

  • Congenital Insensitivity To Pain And Thermal Analgesia

  • Neuropathy, Hereditary Sensory And Autonomic, 5

  • Hereditary Sensory Neuropathy Type V

  • Hsn V

  • Pain Insensitivity, Congenital

  • Neuropathy, Sensory And Autonomic, Hereditary, Type V

  • Hereditary Sensory Autonomic Neuropathy, Type 5

  • Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]

Neuropathy, Hereditary Sensory And Autonomic, Type Vi
  • Hereditary Sensory And Autonomic Neuropathy Type 6

  • HSAN6

  • Hsan Vi

  • Hereditary Sensory And Autonomic Neuropathy Type Vi

  • Familial Dysautonomia With Contractures

  • Neuropathy, Hereditary Sensory And Autonomic, 6

  • Hereditary Sensory Neuropathy Type Vi

  • Hsn Vi

  • Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

Spastic Paraplegia 75, Autosomal Recessive
  • SPG75

  • Hereditary Spastic Paraplegia 75

  • Autosomal Recessive Spastic Paraplegia Type 75

  • Autosomal Recessive Spastic Paraplegia 75

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

Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
  • Lymphedema, Microcephaly And Chorioretinopathy Syndrome

  • Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability

  • MCLMR

  • Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome

  • Mlcrd Syndrome

  • Cdmmr Syndrome

  • Lymphedema And Retinal Folds With Microcephaly And Microphthalmos

  • Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome

  • Microcephaly Lymphedema Chorioretinal Dysplasia

  • Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant

  • Lymphedema, Microcephaly, Chorioretinopathy Syndrome

  • Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos

  • Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome

  • Microcephaly-Lymphedema-Chorioretinopathy Syndrome

  • Mlcrd

  • Lymphedema Microcephaly Chorioretinopathy Syndrome

  • Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome

  • Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability

  • Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation

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

Valproate Embryopathy
  • Fetal Valproate Syndrome

  • Fetal Valproic Acid Syndrome

  • Fvs

  • Valproic Acid Embryopathy

  • Fetal Valproate Spectrum Disorder

  • Valproate Embryopathy, Susceptibility To

  • Foetal Valproate Syndrome

  • Foetal Valproic Acid Syndrome

  • Susceptibility To Valproate Embryopathy

  • Valproic Acid Antenatal Infection

Congenital Fibrosis Of The Extraocular Muscles
  • Congenital Fibrosis Of Extraocular Muscles

  • Cfeom

  • Feom

  • Congenital External Ophthalmoplegia

  • Congenital Fibrosis Syndrome

  • General Fibrosis Syndrome

Autosomal Dominant Intellectual Developmental Disorder
  • Autosomal Dominant Mental Retardation

  • Autosomal Dominant Non-Syndromic Mental Retardation

  • Autosomal Dominant Non-Syndromic Intellectual Disability

  • Mental Retardation, Autosomal Dominant

Spastic Diplegia
  • Diplegic Infantile Cerebral Palsy

  • Little'S Disease

  • Cerebral Palsy

  • Cerebral Spastic Infantile Paralysis

  • Infantile Diplegic Cerebral Palsy

  • Infantile Spastic Cerebral Palsy

  • Littles Disease

  • Spastic Cerebral Palsy

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

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

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

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

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

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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 KIF1A VGNC VGNC:99375
Bos taurus KIF1A VGNC VGNC:30590
Canis familiaris KIF1A VGNC VGNC:42390
Mus musculus KIF1A MGD MGI:108391
Felis catus KIF1A VGNC VGNC:68809
Rattus norvegicus KIF1A RGD RGD:1304996
Others KIF1A NCBI