macular degeneration, x-linked atrophic

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Results for "macular degeneration, x-linked atrophic": 16 genes

Name
EBM Gene epidermolysis bullosa, macular* type*
MCDR3 Gene macular dystrophy, retinal 3
MCDR1 Gene macular dystrophy, retinal, 1 (North Carolina type)
MCDR4 Gene macular dystrophy, retinal, 4 (North Carolina type with progressive sensorineural hearing loss)
CYMD Gene cystoid macular* dystrophy*
VMD1 Gene vitelliform macular* dystrophy, atypical*
MDBS2 Gene butterfly-shaped pigmentary macular* dystrophy 2*
RD3L Gene retinal degeneration 3-like
PRPH2 Gene peripherin 2 (retinal degeneration,* slow)* The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]
LOC101060399 Gene cerebellar degeneration-related protein 2
CDR2L Gene cerebellar degeneration-related protein 2-like Enables identical protein binding activity. Predicted to be involved in Golgi to secretory granule transport and vesicle transport along microtubule. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
PRCD Gene progressive rod-cone degeneration This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
CDR3 Gene Cerebellar degeneration-related autoantigen-3
CDR2 Gene cerebellar degeneration-related protein 2, 62kDa Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
CDR1 Gene cerebellar degeneration-related protein 1, 34kDa Autoantibodies directed against the protein encoded by this intronless gene have been found in some patients with paraneoplastic cerebellar degeneration. The encoded protein contains several hexapeptide repeats. [provided by RefSeq, Jan 2010]
RD3 Gene retinal degeneration 3 This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]