HHIP Chromosome 4
Hedgehog interacting protein
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What This Gene Does
This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]
Associated Conditions (2)
Chronic obstructive pulmonary disease
biomass related
Key Variants
RS13118928
association
Chronic obstructive pulmonary disease, biomass related, Chronic obstructive pulmonary disease
Health Risk
RS13147758
association
Chronic obstructive pulmonary disease, biomass related, Chronic obstructive pulmonary disease
Health Risk
RS1828591
association
Chronic obstructive pulmonary disease, biomass related, Chronic obstructive pulmonary disease
Health Risk
RS114688020
Conflicting classifications of pathogenicity
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS13118928 | Health Risk | association | Chronic obstructive pulmonary disease, biomass related, Chronic obstructive pulmonary disease |
| RS13147758 | Health Risk | association | Chronic obstructive pulmonary disease, biomass related, Chronic obstructive pulmonary disease |
| RS1828591 | Health Risk | association | Chronic obstructive pulmonary disease, biomass related, Chronic obstructive pulmonary disease |
| RS114688020 | Health Risk | Conflicting classifications of pathogenicity | — |