DISP1 Chromosome 1
Dispatched RND transporter family member 1
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What This Gene Does
The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Dispatched RND transporter family
Locus Type
gene with protein product
Location
1q41
Ensembl
ENSG00000154309
Associated Conditions (3)
DISP1-related disorder
Microform holoprosencephaly
Holoprosencephaly 7
Key Variants
RS114523965
Conflicting classifications of pathogenicity
DISP1-related disorder, DISP1-related disorder
Health Risk
RS140364622
Conflicting classifications of pathogenicity
Health Risk
RS141066173
Conflicting classifications of pathogenicity
Health Risk
RS143356409
Conflicting classifications of pathogenicity
Health Risk
RS1679726949
Conflicting classifications of pathogenicity
DISP1-related disorder, DISP1-related disorder
Health Risk
RS200321673
Conflicting classifications of pathogenicity
Microform holoprosencephaly, Microform holoprosencephaly
Health Risk
RS571258186
Conflicting classifications of pathogenicity
Health Risk
RS753844157
Conflicting classifications of pathogenicity
DISP1-related disorder, DISP1-related disorder
Health Risk
RS773799838
Conflicting classifications of pathogenicity
Holoprosencephaly 7, Holoprosencephaly 7
Health Risk
RS1383911599
Likely pathogenic
Health Risk
RS2527754384
Pathogenic
Health Risk
RS374752363
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114523965 | Health Risk | Conflicting classifications of pathogenicity | DISP1-related disorder, DISP1-related disorder |
| RS140364622 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141066173 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143356409 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1679726949 | Health Risk | Conflicting classifications of pathogenicity | DISP1-related disorder, DISP1-related disorder |
| RS200321673 | Health Risk | Conflicting classifications of pathogenicity | Microform holoprosencephaly, Microform holoprosencephaly |
| RS571258186 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753844157 | Health Risk | Conflicting classifications of pathogenicity | DISP1-related disorder, DISP1-related disorder |
| RS773799838 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 7, Holoprosencephaly 7 |
| RS1383911599 | Health Risk | Likely pathogenic | — |
| RS2527754384 | Health Risk | Pathogenic | — |
| RS374752363 | Health Risk | Pathogenic | — |