PBXIP1
Description
The PBXIP1 (PBX homeobox interacting protein 1) is a protein-coding gene located on chromosome 1.
PBXIP1 is also known as HPIP.
Associated Diseases
- Parkinson disease
- microphthalmia with limb anomalies
- upper limb mesomelic dysplasia
- Gollop-Wolfgang complex
- metaphyseal anadysplasia
- Leri-Weill dyschondrosteosis
- rhizomelic dysplasia, Ain-Naz type
- atelosteogenesis type III
- spondylometaphyseal dysplasia, 'corner fracture' type
- multiple epiphyseal dysplasia type 4
- spondylometaphyseal dysplasia, Schmidt type
- fibular aplasia-ectrodactyly syndrome
- lethal faciocardiomelic dysplasia
- symbrachydactyly of hands and feet
- spondyloperipheral dysplasia
- rhizomelic dysplasia, Patterson-Lowry type
- multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
- acheiropody
