KIF1A Chromosome 2
Kinesin family member 1A
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What This Gene Does
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]
Gene Info
Gene Group
"Kinesins|Pleckstrin homology domain containing"
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000130294
Associated Conditions (29)
Intellectual disability
autosomal dominant 9
Hereditary spastic paraplegia 30
Neuropathy
hereditary sensory
type 2C
KIF1A related neurological disorder
KIF1A-related disorder
Inborn genetic diseases
See cases
Hereditary spastic paraplegia
hereditary sensory and autonomic
type 2A
Spastic paraplegia
History of neurodevelopmental disorder
Hereditary ataxia
Spastic paraplegia 30B
autosomal recessive
Charcot-Marie-Tooth disease type 2
Spastic ataxia
+9 more conditions
Key Variants
RS1036143999
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Health Risk
RS1049441176
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory
Health Risk
RS10594016
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 9, KIF1A related neurological disorder
Health Risk
RS1064796756
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 30, Inborn genetic diseases, Intellectual disability
Health Risk
RS1064796903
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory
Health Risk
RS111507743
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory
Health Risk
RS114566813
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
Health Risk
RS1157791693
Conflicting classifications of pathogenicity
See cases, Hereditary spastic paraplegia 30, Neuropathy
Health Risk
RS115877951
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
Health Risk
RS115916702
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
Health Risk
RS116297894
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory
Health Risk
RS1167604511
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neuropathy, hereditary sensory
Health Risk
All Variants (486)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780380861 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS797045050 | Health Risk | Likely pathogenic | Spastic paraplegia, Neuropathy, hereditary sensory |
| RS876661168 | Health Risk | Likely pathogenic | Intellectual disability, autosomal dominant 9, Intellectual disability |
| RS879253888 | Health Risk | Likely pathogenic | Inborn genetic diseases, Intellectual disability, autosomal dominant 9 |
| RS879253991 | Health Risk | Likely pathogenic | — |
| RS879253998 | Health Risk | Likely pathogenic | — |
| RS879254017 | Health Risk | Likely pathogenic | — |
| RS879254106 | Health Risk | Likely pathogenic | — |
| RS1057518760 | Health Risk | Pathogenic | Spastic paraplegia, Hyperreflexia, Lower limb hyperreflexia |
| RS1057519164 | Health Risk | Pathogenic | — |
| RS1064796046 | Health Risk | Pathogenic | — |
| RS1064796565 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 2C |
| RS1318848388 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 2C |
| RS1473143877 | Health Risk | Pathogenic | — |
| RS1553637932 | Health Risk | Pathogenic | Inborn genetic diseases, Neuropathy, hereditary sensory |
| RS1553639011 | Health Risk | Pathogenic | — |
| RS1575514086 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 2C |
| RS1575600733 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS1575626071 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 2C |
| RS201314877 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS2045066309 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2052660081 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2054280202 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 9, Intellectual disability |
| RS2056562900 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 2C |
| RS2125575723 | Health Risk | Pathogenic | — |
| RS2125597503 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2125598333 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2125794023 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 9, Intellectual disability |
| RS2125889990 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2125890780 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2125976585 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30 |
| RS2125976707 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS2125976763 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS2125976792 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS2126049633 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2126049787 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS2126054153 | Health Risk | Pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 30, Neuropathy |
| RS2126054169 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 2C |
| RS2126062571 | Health Risk | Pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS2126062641 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS2126071436 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS2126071766 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2126147743 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30 |
| RS2536614499 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2536680543 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2536723934 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 2C |
| RS2537300033 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30 |
| RS2537539083 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2537729498 | Health Risk | Pathogenic | Hereditary spastic paraplegia 30, Neuropathy, hereditary sensory |
| RS2537927812 | Health Risk | Pathogenic | Neuropathy, hereditary sensory, type 2C |