Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene. [5] [6]
This gene encodes a member of the eyes absent (EYA) subfamily of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three distinct isoforms have been identified for this gene. [6]
The metanephrogenic blastema or metanephric blastema is one of the two embryological structures that give rise to the kidney, the other being the ureteric bud.
Tyrosine-protein kinase transmembrane receptor ROR2, also known as neurotrophic tyrosine kinase, receptor-related 2, is a protein that in humans is encoded by the ROR2 gene located on position 9 of the long arm of chromosome 9. This protein is responsible for aspects of bone and cartilage growth. It is involved in Robinow syndrome and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine kinase-like orphan receptor (ROR) family.
Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It is also known as Melnick-Fraser syndrome.
Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.
ADGRV1, also known as G protein-coupled receptor 98 (GPR98) or Very Large G-protein coupled receptor 1 (VLGR1), is a protein that in humans is encoded by the GPR98 gene. Several alternatively spliced transcripts have been described.
Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.
Aprataxin is a protein that in humans is encoded by the APTX gene.
Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.
Mesoderm-specific transcript homolog protein is a protein that in humans is encoded by the MEST gene.
Homeobox protein SIX1 is a protein that in humans is encoded by the SIX1 gene.
Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene. As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Eyes absent homolog 2 is a protein that in humans is encoded by the EYA2 gene.
Homeobox protein SIX5 is a protein that in humans is encoded by the SIX5 gene.
Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.
Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. Mutations in the NDP gene are associated with the Norrie disease.
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
Homeobox protein SIX2 is a protein that in humans is encoded by the SIX2 gene.
Shrawan Kumar, is an Indian-American geneticist, working in the fields of molecular and population genetics. He contributed to the discovery of two genes related to Branchio-oto-renal syndrome (BOR) and Autosomal Dominant Polycystic Kidney Disease (ADPKD2).