F27C1.11

Caenorhabditis elegans

Predicted to be involved in intracellular signal transduction. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; autosomal recessive nonsyndromic deafness 77; and orofacial cleft. Is an ortholog of human LOXHD1 (lipoxygenase homology PLAT domains 1).

abts-3

Caenorhabditis elegans

Predicted to enable transmembrane transporter activity. Predicted to be involved in monoatomic ion homeostasis and transmembrane transport. Predicted to be located in basolateral plasma membrane. Expressed in hypodermis and neurons. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; and corneal dystrophy-perceptive deafness syndrome. Is an ortholog of human SLC4A11 (solute carrier family 4 member 11).

Agbl1

Rattus norvegicus

Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in proteolysis. Predicted to be located in cytosol. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy. Orthologous to human AGBL1 (AGBL carboxypeptidase 1); INTERACTS WITH alpha-Zearalanol; atrazine; bisphenol A.

Loxhd1

Rattus norvegicus

Predicted to be involved in sensory perception of sound. Predicted to be active in stereocilium. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; autosomal recessive nonsyndromic deafness 77; and orofacial cleft. Orthologous to human LOXHD1 (lipoxygenase homology PLAT domains 1); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; acrylamide; atrazine.

abts-2

Caenorhabditis elegans

Predicted to enable transmembrane transporter activity. Predicted to be involved in monoatomic ion homeostasis and transmembrane transport. Located in basolateral plasma membrane. Expressed in dorsal-rectal ganglion neurons; gonadal sheath cell; and tail neurons. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy; congenital hereditary endothelial dystrophy of cornea; and corneal dystrophy-perceptive deafness syndrome. Is an ortholog of human SLC4A11 (solute carrier family 4 member 11).

ccpp-1

Caenorhabditis elegans

Predicted to enable metallocarboxypeptidase activity and zinc ion binding activity. Involved in egg-laying behavior. Predicted to be located in cilium; dendrite; and perikaryon. Expressed in ciliated neurons and gubernacular muscle. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy. Is an ortholog of human AGBL1 (AGBL carboxypeptidase 1).

Agbl1

Homo sapiens

Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]

Zeb1

Homo sapiens

This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]

Col8a2

Homo sapiens

This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Slc4a11

Homo sapiens

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]