SHROOM2
Description
The SHROOM2 (shroom family member 2) is a protein-coding gene located on chromosome X.
The SHROOM2 gene in humans codes for the Shroom family member 2 protein. It is the human counterpart of the Xenopus laevis apical protein (APX) gene, which is linked to amiloride-sensitive sodium channel activity. SHROOM2 is found in endothelial cells and helps form a contractile network within them. Reducing its presence leads to increased endothelial sprouting, migration, and angiogenesis. Highly expressed in the retina, it's a strong candidate for ocular albinism type 1 syndrome. Alternative forms of this gene have been identified.
May play a role in altering the shape of endothelial cells as they spread out. In the retinal pigment epithelium, it might control the creation of melanosomes and ensure they are positioned on the cell's outer surface by influencing the distribution of gamma-tubulin.
SHROOM2 is also known as APXL, HSAPXL.
Associated Diseases
- X-linked retinal dysplasia
- retinitis pigmentosa
- severe early-childhood-onset retinal dystrophy
- reticular dystrophy of the retinal pigment epithelium
- isolated asymptomatic elevation of creatine phosphokinase
- X-linked retinoschisis
- age related macular degeneration 11
- age related macular degeneration 4
- age related macular degeneration 7
- pentosuria
- late-onset retinal degeneration
- birdshot chorioretinopathy
- coloboma of optic nerve
- retinitis pigmentosa 50
- snowflake vitreoretinal degeneration
- exudative vitreoretinopathy 2, X-linked
