HOXA11 Chromosome 7
Homeobox A11
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What This Gene Does
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
7p15.2
Ensembl
ENSG00000005073
Associated Conditions (4)
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
HOXA11-related disorder
Mesomelic dysplasia with urogenital abnormalities
Inherited genitourinary tract anomalies
Key Variants
RS143812636
Conflicting classifications of pathogenicity
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, HOXA11-related disorder, Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Health Risk
RS2534803364
Likely pathogenic
Mesomelic dysplasia with urogenital abnormalities, Mesomelic dysplasia with urogenital abnormalities
Health Risk
RS2534803515
Likely pathogenic
Inherited genitourinary tract anomalies, Inherited genitourinary tract anomalies
Health Risk
RS864321666
Pathogenic
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143812636 | Health Risk | Conflicting classifications of pathogenicity | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, HOXA11-related disorder, Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 |
| RS2534803364 | Health Risk | Likely pathogenic | Mesomelic dysplasia with urogenital abnormalities, Mesomelic dysplasia with urogenital abnormalities |
| RS2534803515 | Health Risk | Likely pathogenic | Inherited genitourinary tract anomalies, Inherited genitourinary tract anomalies |
| RS864321666 | Health Risk | Pathogenic | Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 |