Related Research Articles
Alstrom syndrome 1 also known as ALMS1 is a protein which in humans is encoded by the ALMS1 gene.
Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.
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.
Cadherin EGF LAG seven-pass G-type receptor 2 is a protein that in humans is encoded by the CELSR2 gene.
Kinesin-like protein KIF1B is a protein that in humans is encoded by the KIF1B gene.
Lysine N-methyltransferase 2C (KMT2C) also known as myeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3) is an enzyme that in humans is encoded by the KMT2C gene.
Neuroligin-4, X-linked is a protein that in humans is encoded by the NLGN4X gene.
PHD finger protein 6 is a protein that in humans is encoded by the PHF6 gene.
Protocadherin 11 X-linked, also known as PCDH11X, is a protein which in humans is encoded by the PCDH11X gene.
Phosphatidylinositide phosphatase SAC1 is an enzyme that in humans is encoded by the SACM1L gene.
Striated muscle preferentially expressed protein kinase, in the human is encoded by the SPEG gene, a member of the myosin light chain kinase protein family. SPEG is involved in the development of the muscle cell cytoskeleton, and the expression of this gene has important roles in the development of skeletal muscles, and their maintenance and function. Mutations are associated with centronuclear myopathies a group of congenital disorders where the cell nuclei are abnormally centrally placed.
Rho-related BTB domain-containing protein 2 is a protein that in humans is encoded by the RHOBTB2 gene.
Protocadherin-10 is a protein that in humans is encoded by the PCDH10 gene.
Protocadherin alpha-9 is a protein that in humans is encoded by the PCDHA9 gene.
WD repeat-containing protein 37 is a protein that in humans is encoded by the WDR37 gene.
Uncharacterized protein KIAA1377 is a protein that in humans is encoded by the KIAA1377 gene. Also known as Cep126, the protein has been shown to localize to the centrosome. Furthermore, it is found at pericentriolar satellites and the base of the primary cilium. Depleting Cep126 leads to dispersion of pericentriolar satellites, in turn disrupting microtubule organization at the mitotic spindle.
Protocadherin gamma-A12 is a protein that in humans is encoded by the PCDHGA12 gene.
Protocadherin-18 is a protein that in humans is encoded by the PCDH18 gene.
Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominately females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally accompanied by varying degrees of cognitive impairment. The striking pattern of onset seizures at a young age, genetic testing and laboratory results, potential developmental delays or developmental regression and associated disorders, eases diagnosis.
Xp11.2 duplication is a genomic variation marked by the duplication of an X chromosome region on the short arm p at position 11.2, defined by standard karyotyping (G-banding). This gene-rich, rearrangement prone region can be further divided into three loci - Xp11.21, Xp11.22 and Xp11.23. The duplication could involve any combination of these three loci. While the length of the duplication can vary from 0.5Mb to 55 Mb, most duplications measure about 4.5Mb and typically occur in the region of 11.22-11.23. Most affected females show preferential activation of the duplicated X chromosome. Features of affected individuals vary significantly, even among members of the same family. The Xp11.2 duplication can be 'silent' - presenting no obvious symptoms in carriers - which is known from the asymptomatic parents of affected children carrying the duplication. The common symptoms include intellectual disabilities, speech delay and learning difficulties, while in rare cases, children have seizures and a recognizable brain wave pattern when assessed by EEG (electroencephalography).
References
- ↑ Dell'Isola GB, Vinti V, Fattorusso A, Tascini G, Mencaroni E, Di Cara G, Striano P, Verrotti A (2021). "The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation". Frontiers in Neurology. 12: 780053. doi: 10.3389/fneur.2021.780053 . PMC 8801579 . PMID 35111125.
- ↑ Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi: 10.1093/dnares/7.1.65 . PMID 10718198.
- ↑ Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J (February 2019). "A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity". Molecular Psychiatry. 24 (2): 241–251. doi:10.1038/s41380-018-0066-9. PMC 6344372 . PMID 29892053.
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