Protein which, if defective, causes Kallmann syndrome, a disorder characterized by the association of hypogonadotropic hypogonadism with anosmia or hyposmia. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). In some patients other developmental anomalies can be present such as renal agenesis, cleft lip/palate, selective tooth agenesis and bimanual synkinesis
Protein which, if defective, causes Waardenburg syndrome, an autosomal dominant disorder, characterized by sensorineural deafness associated with pigmentary changes of the irides, hair and skin; each of these features may be uni- or bilateral. On the basis of the presence or absence of dystopia canthorum (lateral displacement of the inner corner of the eye), Waardenburg syndrome type 1 (WS1) and type 2 (WS2) are distinguished. Additionally, the association of WS1 with limb anomalies defines Waardenburg syndrome type 3 (WS3), while the association of Waardenburg features with Hirschsprung disease defines Waardenburg syndrome type 4 (WS4)
Protein which contains at least one zinc finger. A small, functional, independently folded domain that requires coordination of one or more zinc ions to stabilize its structure. Zinc fingers vary widely in structure, as well as in function, which ranges from DNA or RNA binding to protein-protein interactions and membrane association
Protein involved in the Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell- fate determinations. Notch proteins are transmembrane receptors, which are cleaved by the gamma-secretase complex upon activation and released from the cell membrane and turn into transcriptional activators after their association with SU(H) proteins
Protein involved in the synthesis of brassinosteroids, a class of steroid plant hormones. Brassinosteroids are involved in numerous plant processes, such as cell expansion and elongation (in association with auxin), vascular differentiation, pollen elongation and pollen tube formation and protection to plants during chilling and drought stress. Brassinolide is the first isolated brassinosteroid
Protein which, if defective, causes ichthyosis, any of a group of cutaneous disorders characterized by increased or aberrant keratinization and resulting in non-inflammatory scaling of the skin Most ichthyoses are genetically determined, while some may be acquired and develop in association with various systemic diseases or be a prominent feature in certain genetic syndromes
Protein which, if defective, causes lissencephaly, a brain malformation characterized by the absence (agyria) or reduction (pachygyria) of brain surface convolutions (gyri), in association with abnormal organisation of the cortical layers. It results from neuronal migration defects during embryogenesis. Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. Lissencephaly means "smooth brain"
Viral protein that is involved in or facilitates the conversion of a linear double stranded DNA viral genome into a circular form, either by homologous recombination between redundant ends or by association of complementary single stranded ends (sticky ends). Circular genomes can support rolling circle replication and, for many viruses, genome circularization is also necessary for latency
Protein involved in the brassinosteroid (BR) signaling pathway (e.g transport and signal transduction) that regulates many aspects of plant growth and development including cell expansion and elongation (in association with auxin), vascular differentiation and pollen elongation and pollen tube formation. Also involved in plants protection during chilling and drought stress. BRs are polyhydroxysteroid phytohormones and over 70 BR compounds have been isolated in plants. Brassinolide was the first BR isolated from Brassica napus and remains one of the most active BR
Protein involved in osteogenesis, the mechanism of bone formation wether intramembranous or endochondral. In intramembranous ossification, bone is formed by differentiation of mesenchymal cells into osteoblasts with absence of a cartilaginous model. The flat bones of the skull, the sternum, and the scapula are examples of bones that develop by intramembranous ossification. The term endochondral refers to the close association of the developing bone with the pre-existing hyaline cartilage model of that bone. The long bones of the limbs (including the phalanges) and the ribs develop by endochondral ossification
Protein which, if defective, causes Joubert syndrome, an autosomal recessive multisystem disorder characterized by cerebellar ataxia, developmental delay, hypotonia, neonatal breathing abnormalities and oculomotor apraxia. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of the 'molar tooth sign' on transaxial slices. A wide clinical variability with a marked variation in severity and inconsistent presence of the following features is observed: episodic apnea-hyperpnea, abnormal eye movements, occipital meningoencephalocele, polydactyly, nephronophthisis or cystic dysplasia of the kidney, chorioretinal coloboma and retinal dysplasia The variable association of ocular and renal abnormalities with cerebellar features typical of Joubert syndrome defines the cerebello- oculo-renal syndromes (CORSs)
Protein which, if defective, causes hereditary palmoplantar keratoderma (PPK), a genetically and clinically diverse group of cutaneous disorders characterized by abnormal thickening of the skin on the palms and soles. It results from excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis). PPKs are distinguished from each other on the basis of mode of inheritance, presence of transgrediens (defined as contiguous extension of hyperkeratosis beyond the palmar and/or plantar skin), association with other skin findings and/or abnormalities of other organs, and extent of epidermal involvement (diffuse, focal, punctate). Diffuse PPK is characterized by uniform involvement of the palmoplantar surface; focal PPK consists of localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction; punctate PPK shows multiple small, hyperkeratotic papules or nodules on the palms and soles
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