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Isolated Hypogonadotropic Hypogonadism
Isolated hypogonadotropic hypogonadism (IHH), also called idiopathic or congenital hypogonadotropic hypogonadism (CHH), as well as isolated or congenital gonadotropin-releasing hormone deficiency (IGD), is a condition which results in a small subset of cases of hypogonadotropic hypogonadism (HH) due to deficiency in or insensitivity to gonadotropin-releasing hormone (GnRH) where the function and anatomy of the anterior pituitary is otherwise normal and secondary causes of HH are not present. Presentation Congenital hypogonadotropic hypogonadism presents as hypogonadism, e.g., reduced or absent puberty,Young J. Approach to the male patient with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 2012 Mar;97(3):707-18. doi: 10.1210/jc.2011-1664. low libido, infertility, etc. due to an impaired release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and a resultant lack of sex steroid and peptides production by the gonads.Giton F ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Condition
A disease is a particular abnormal condition that adversely affects the structure or function (biology), function of all or part of an organism and is not immediately due to any external injury. Diseases are often known to be medical conditions that are associated with specific signs and symptoms. A disease may be caused by external factors such as pathogens or by internal dysfunctions. For example, internal dysfunctions of the immune system can produce a variety of different diseases, including various forms of immunodeficiency, hypersensitivity, allergy, allergies, and autoimmune disorders. In humans, ''disease'' is often used more broadly to refer to any condition that causes pain, Abnormality (behavior), dysfunction, distress (medicine), distress, social problems, or death to the person affected, or similar problems for those in contact with the person. In this broader sense, it sometimes includes injury in humans, injuries, disability, disabilities, Disorder (medicine) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TACR3
Tachykinin receptor 3, also known as TACR3, is a protein which in humans is encoded by the ''TACR3'' gene. Function This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. Selective ligands A number of selective ligands are available for NK3. NK3 receptor antagonists are being investigated as treatments for various indications. Agonists * Neurokinin B Neurokinin B (NKB) belongs in the family of tachykinin peptides. Neurokinin B is implicated in a variety of human functions and pathways such as the secretion of gonadotropin-releasing hormone. Additionally, NKB is associated with pregnancy in fe ... – endogenous peptide ligand, also intera ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KISS1R
The KiSS1-derived peptide receptor (also known as GPR54 or the Kisspeptin receptor) is a G protein-coupled receptor which binds the peptide hormone kisspeptin (metastin). Kisspeptin is encoded by the metastasis suppressor gene KISS1, which is expressed in a variety of endocrine and gonadal tissues. Activation of the kisspeptin receptor is linked to the phospholipase C and inositol trisphosphate second messenger cascades inside the cell. Kisspeptins are neuropeptides synthesized in the hypothalamus and encoded by the KISS1 gene. The KISS1 gene encodes the G protein-coupled receptor 54 (known as KISS1R or GPR54) and plays a crucial role in regulating reproduction, pubertal maturation, and metabolic function. KISS1 neurons located in the arcuate nucleus (ARC) of the mediobasal hypothalamus (MBH) project to GnRH neurons in the median eminence, which expresses KISS1R, to stimulate LH secretions in a pulsatile manner from the anterior pituitary to initiate ovulation/ pubertal matura ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
WDR11 (gene)
WD repeat-containing protein 11 (WDR11) also known as bromodomain and WD repeat-containing protein 2 (BRWD2) is a protein that in humans is encoded by the WDR11 gene. Function This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. WDR11 has been shown to be part of a trimer with FAM91A1 (Family With Sequence Similarity 91 Member A1) and C17orf75, as elicited through immunoprecipitation, fractionation, and mass spectrometry. This trimer has been proposed to promote the Golgi’s capture of vesicles. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Clinical significance This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SEMA3A
Semaphorin-3A is a protein that in humans is encoded by the ''SEMA3A'' gene. Function The ''SEMA3A'' gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted Semaphorin-3A protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Semaphorin-3A is secreted by neurons and surrounding tissue to guide migrating cells and axons in the developing nervous system. Axon pathfinding is the process by which neurons follow very precise paths, send out axons, and react to specific chemical environments to reach the correct endpoint. The guidance is critical for the precise formation of neurons and the surrounding vasculature. Guidance cues, such as Sema3A, induce the collapse and paralysis of neuronal gr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DUSP6
Dual specificity phosphatase 6 (DUSP6) is an enzyme that in humans is encoded by the ''DUSP6'' gene. Function The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas and, unlike most other members of this family, is localized in the cyt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPRY4
Protein sprouty homolog 4 is a protein that in humans is encoded by the ''SPRY4'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... Function SPRY4 is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. It is positioned upstream of RAS (see HRAS; MIM 190020) activation and impairs the formation of active GTP-RAS (Leeksma et al., 2002). Interactions SPRY4 has been shown to interact with TESK1. See also * MAPK signaling pathway * Ras subfamily References Further reading * * * * * * External links PDBe-KBprovides an overview of all the structure information available in the PDB for Human Protein sprouty homolog 4 (SPRY4) SPR domain Human proteins {{gene-5-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FLRT3
Leucine-rich repeat transmembrane protein FLRT3 is a protein that in humans is encoded by the ''FLRT3'' gene. FLRT1, FLRT2 and FLRT3 are members of the fibronectin leucine rich transmembrane protein (FLRT) family. They may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. FLRT3 shares 55% amino acid sequence identity with FLRT1 and 44% identity with FLRT2. FLRT3 is expressed in kidney, brain, pancreas, skeletal muscle, lung, liver, placenta, and heart The heart is a muscular Organ (biology), organ found in humans and other animals. This organ pumps blood through the blood vessels. The heart and blood vessels together make the circulatory system. The pumped blood carries oxygen and nutrie .... Two alternatively spliced transcript variants encoding the same protein have been described for this gene. References Further reading * * * * * * * {{gene-20-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CHD7
Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor that in humans is encoded by the ''CHD7'' gene. CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome. This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily. Clinical Mutations in this gene have been associated with the CHARGE syndrome CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came into use for newborn children with the congenital features of coloboma of the eye, heart .... References Further reading * * * * * * * * * * * * * * * * * * * * * In * In * In External links * * {{Transcription Genes mutated in mice ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nasal Embryonic LHRH Factor
Nasal embryonic luteinizing hormone-releasing hormone factor is a protein that in humans is encoded by the ''NELF'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei .... References Further reading * * * {{protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PROKR2
Prokineticin receptor 2 (PKR2), is a dimeric G protein-coupled receptor encoded by the PROKR2 gene in humans. Function Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. PKR2 is composed of 384 amino acids. Asparagine residues at position 7 and 27 undergo N-linked glycosylation. Cysteine residues at position 128 and 208 form a disulfide bond. The encoded protein is similar in sequence to GPR73, another G protein-coupled receptor for prokineticins. PKR2 is also linked to mammalian circadian rhythm. Levels of PKR2 mRNA fluctuate in the suprachiasmatic nucleus, increasing during the day and decreasing at night. Mutations in the ''PROKR2'' (also known as ''KAL3'') gene have been implicated in hypogonadotropic hypogonadism and gynecomastia. Total loss of PKR2 in mice leads to spontaneous tor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
