KIF5A Chromosome 12
Kinesin family member 5A
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What This Gene Does
This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Kinesins
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000155980
Associated Conditions (19)
Spastic paraplegia
KIF5A-related intractable neonatal myoclonus
Hereditary spastic paraplegia 10
Amyotrophic lateral sclerosis
Hereditary spastic paraplegia
KIF5A-related disorder
Inborn genetic diseases
Myoclonus
intractable
neonatal
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Distal myopathy
susceptibility to
25
Intellectual disability
Charcot-Marie-Tooth disease type 2
Peripheral neuropathy
Auditory neuropathy
Demyelinating peripheral neuropathy
Key Variants
RS1055742325
Conflicting classifications of pathogenicity
Spastic paraplegia, KIF5A-related intractable neonatal myoclonus, Spastic paraplegia
Health Risk
RS1057522322
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1064797169
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS113247976
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 10, Spastic paraplegia, Amyotrophic lateral sclerosis
Health Risk
RS1177916529
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1188692048
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS121434444
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 10, Spastic paraplegia, KIF5A-related disorder
Health Risk
RS1218452123
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1224640834
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS1227040638
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 10, Spastic paraplegia, Hereditary spastic paraplegia 10
Health Risk
RS1236506833
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1271167685
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 10, Spastic paraplegia, Hereditary spastic paraplegia 10
Health Risk
All Variants (157)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434443 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 10, Spastic paraplegia, KIF5A-related disorder |
| RS1555177629 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia, Spastic paraplegia, Hereditary spastic paraplegia 10 |
| RS1555177824 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia, Hereditary spastic paraplegia 10, Hereditary spastic paraplegia |
| RS1555178616 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Spastic paraplegia |
| RS1555179087 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis, susceptibility to, 25 |
| RS748551786 | Health Risk | Pathogenic/Likely pathogenic | Spastic paraplegia, Hereditary spastic paraplegia 10, KIF5A-related disorder |
| RS1218712729 | Health Risk | risk factor | Amyotrophic lateral sclerosis, susceptibility to, 25 |