HSPA1L Chromosome 6
Heat shock protein family A (Hsp70) member 1 like
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What This Gene Does
This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Heat shock 70kDa proteins|TIM23 complex"
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000204390
Associated Conditions (2)
Inflammatory bowel disease 1
Chronic obstructive pulmonary disease
Key Variants
RS139868987
association
Inflammatory bowel disease 1, Inflammatory bowel disease 1
Health Risk
RS2227956
association
Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
Health Risk
RS368138379
association
Inflammatory bowel disease 1, Inflammatory bowel disease 1
Health Risk
RS750447828
association
Inflammatory bowel disease 1, Inflammatory bowel disease 1
Health Risk
RS760220858
Conflicting classifications of pathogenicity
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139868987 | Health Risk | association | Inflammatory bowel disease 1, Inflammatory bowel disease 1 |
| RS2227956 | Health Risk | association | Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease |
| RS368138379 | Health Risk | association | Inflammatory bowel disease 1, Inflammatory bowel disease 1 |
| RS750447828 | Health Risk | association | Inflammatory bowel disease 1, Inflammatory bowel disease 1 |
| RS760220858 | Health Risk | Conflicting classifications of pathogenicity | — |