Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), also known as CDC73 and parafibromin, is a protein which in humans is encoded by the CDC73 gene. [5] [6] [7]
Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae), also known as CDC73 and parafibromin, is a protein which in humans is encoded by the CDC73 gene. [5] [6] [7]
Parafibromin, LEO1, PAF1, and CTR9 form the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. [8]
Mutations in the CDC73 gene are associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT) [7] and parathyroid carcinomas. [9] [10]
Multiple endocrine neoplasia type 1 (MEN-1) is one of a group of disorders, the multiple endocrine neoplasias, that affect the endocrine system through development of neoplastic lesions in pituitary, parathyroid gland and pancreas. Individuals suffering from this disorder are prone to developing multiple endocrine and nonendocrine tumors. It was first described by Paul Wermer in 1954.
Multiple endocrine neoplasia type 2 is a group of medical disorders associated with tumors of the endocrine system. The tumors may be benign or malignant (cancer). They generally occur in endocrine organs, but may also occur in endocrine tissues of organs not classically thought of as endocrine. MEN2 is a sub-type of MEN and itself has sub-types, as discussed below. Variants in MEN2A have been associated with Hirschsprung disease. Screening for this condition can begin as young as eight years old for Pheochromocytoma.
N-acetylgalactosamine-6-sulfatase is an enzyme that, in humans, is encoded by the GALNS gene.
Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.
Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.
Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.
Indian hedgehog homolog (Drosophila), also known as IHH, is a protein which in humans is encoded by the IHH gene. This cell signaling protein is in the hedgehog signaling pathway. The several mammalian variants of the Drosophila hedgehog gene (which was the first named) have been named after the various species of hedgehog; the Indian hedgehog is honored by this one. The gene is not specific to Indian hedgehogs.
Eyes absent homolog 1 is a protein that in humans is encoded by the EYA1 gene.
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.
Hermansky–Pudlak syndrome 4 protein is a protein that in humans is encoded by the HPS4 gene.
Putative ribosomal RNA methyltransferase 1 is an enzyme that in humans is encoded by the FTSJ1 gene.
A disintegrin and metalloproteinase with thrombospondin motifs 10 is an enzyme that in humans is encoded by the ADAMTS10 gene.
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.
Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.
Wnt-10a is a protein that in humans is encoded by the WNT10A gene.
Protocadherin Fat 4, also known as cadherin family member 14 (CDHF14) or FAT tumor suppressor homolog 4 (FAT4), is a protein that in humans is encoded by the FAT4 gene.
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