PITX1 Chromosome 5
Paired like homeodomain 1
Upload your DNA to see your personal genotypes for variants in PITX1.
What This Gene Does
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
5q31.1
Ensembl
ENSG00000069011
Associated Conditions (3)
Micrognathia
Clubfoot
Hurler syndrome
Key Variants
RS141612135
Conflicting classifications of pathogenicity
Micrognathia, Micrognathia
Health Risk
RS370433085
Conflicting classifications of pathogenicity
Clubfoot, Clubfoot
Health Risk
RS1057523765
Likely pathogenic
Health Risk
RS1752408604
Likely pathogenic
Clubfoot, Clubfoot
Health Risk
RS1752408637
Likely pathogenic
Hurler syndrome, Hurler syndrome
Health Risk
RS2149562896
Likely pathogenic
Clubfoot, Clubfoot
Health Risk
RS2479667684
Likely pathogenic
Health Risk
RS2479672475
Likely pathogenic
Clubfoot, Clubfoot
Health Risk
RS121909109
Pathogenic
Clubfoot, Clubfoot
Health Risk
RS730882191
Pathogenic
Clubfoot, Clubfoot
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141612135 | Health Risk | Conflicting classifications of pathogenicity | Micrognathia, Micrognathia |
| RS370433085 | Health Risk | Conflicting classifications of pathogenicity | Clubfoot, Clubfoot |
| RS1057523765 | Health Risk | Likely pathogenic | — |
| RS1752408604 | Health Risk | Likely pathogenic | Clubfoot, Clubfoot |
| RS1752408637 | Health Risk | Likely pathogenic | Hurler syndrome, Hurler syndrome |
| RS2149562896 | Health Risk | Likely pathogenic | Clubfoot, Clubfoot |
| RS2479667684 | Health Risk | Likely pathogenic | — |
| RS2479672475 | Health Risk | Likely pathogenic | Clubfoot, Clubfoot |
| RS121909109 | Health Risk | Pathogenic | Clubfoot, Clubfoot |
| RS730882191 | Health Risk | Pathogenic | Clubfoot, Clubfoot |