HNRNPA1 Chromosome 12
Heterogeneous nuclear ribonucleoprotein A1
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What This Gene Does
This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"RNA binding motif containing|Spliceosomal A complex|Heterogeneous nuclear ribonucleoproteins"
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000135486
Associated Conditions (6)
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Distal myopathy
Relapsing remitting multiple sclerosis
Amyotrophic lateral sclerosis type 20
Chronic progressive multiple sclerosis
Finnish upper limb-onset distal myopathy
Key Variants
RS1592173638
Likely pathogenic
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Health Risk
RS2540586309
Likely pathogenic
Distal myopathy, Distal myopathy
Health Risk
RS3207617
Likely pathogenic
Relapsing remitting multiple sclerosis, Relapsing remitting multiple sclerosis
Health Risk
RS397518452
Likely pathogenic
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Health Risk
RS397518453
Likely pathogenic
Amyotrophic lateral sclerosis type 20, Amyotrophic lateral sclerosis type 20
Health Risk
RS483353022
Likely pathogenic
Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
Health Risk
RS483353023
Likely pathogenic
Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
Health Risk
RS483353024
Likely pathogenic
Relapsing remitting multiple sclerosis, Relapsing remitting multiple sclerosis
Health Risk
RS483353029
Likely pathogenic
Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
Health Risk
RS483353030
Likely pathogenic
Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
Health Risk
RS483353032
Likely pathogenic
Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
Health Risk
RS483353033
Likely pathogenic
Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1592173638 | Health Risk | Likely pathogenic | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 |
| RS2540586309 | Health Risk | Likely pathogenic | Distal myopathy, Distal myopathy |
| RS3207617 | Health Risk | Likely pathogenic | Relapsing remitting multiple sclerosis, Relapsing remitting multiple sclerosis |
| RS397518452 | Health Risk | Likely pathogenic | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 |
| RS397518453 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 20, Amyotrophic lateral sclerosis type 20 |
| RS483353022 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353023 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353024 | Health Risk | Likely pathogenic | Relapsing remitting multiple sclerosis, Relapsing remitting multiple sclerosis |
| RS483353029 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353030 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353032 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353033 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353034 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353035 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353036 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353038 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353039 | Health Risk | Likely pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS2540585995 | Health Risk | Pathogenic | Finnish upper limb-onset distal myopathy, Finnish upper limb-onset distal myopathy |
| RS483353028 | Health Risk | Pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |
| RS483353031 | Health Risk | Pathogenic | Chronic progressive multiple sclerosis, Chronic progressive multiple sclerosis |