Genereviews col4a2
WebCollagen, type IV, alpha 2 Edit View history Tools Collagen alpha-2 (IV) chain is a protein that in humans is encoded by the COL4A2 gene. [5] [6] [7] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes.
Genereviews col4a2
Did you know?
WebGeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. WebAug 21, 2012 · COL4A1 and COL4A2 are translated at the rough endoplasmic reticulum (ER) where nascent peptides interact with ER resident proteins to ensure proper folding, post-translational modification and heterotrimer assembly (Fig. 2 A).
WebCol·lagen tipus VI. El col·lagen tipus VI és una forma de col·lagen principalment associada amb la matriu extracel·lular del múscul esquelètic. [1] Està associat amb els gens COL6A1, COL6A2 i COL6A3 . Els seus defectes estan associats amb la miopatia de Bethlem i la distròfia muscular congènita d'Ullrich. [2] [3] [4] WebDec 18, 2012 · A number sign (#) is used with this entry because susceptibility to intracerebral hemorrhage (ICH) can be conferred by heterozygous mutation in the COL4A2 ( 120090) or COL4A1 ( 120130) genes, both on chromosome 13q34, or by variation in the ACE gene ( 106180) on chromosome 17q23. See also ischemic stroke ( 601367 ).
WebJun 25, 2004 · Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy … WebIn total, 21 COL4A1 and 3 COL4A2 mutations were identified, mostly in children with porencephaly or other patterns of parenchymal hemorrhage, with a high de novo mutation rate of 40% (10/24). A review of the literature brought the total to 137 individuals with a COL4A1 mutation, 54 of whom had periventricular leukencephaly or small vessel ...
WebSep 24, 2024 · Compared with patients with extrahepatic bile duct carcinoma of positive COL4A2 and COL4A6, loss of COL4A2 and COL4A6 had significantly poorer prognosis . Nie et al. ( 20 ) reported that aberrant expression of COL4A3 might play a role in the malignant transformation of gastric epithelial cells, which is a key step in the progression …
WebJan 31, 2024 · Summary. COL4A1/A2-related disorders are rare, genetic, multi-system disorders. They are typically characterized by abnormal blood vessels in the brain … red curry pork recipeWebOct 24, 2024 · If there were any review articles on the gene, or if there were relevant entries in the GeneReviews database ... COL4A2, was suggestively associated with stroke in a large GWAS meta-analysis . knit ear warmer headband with flowerWebNov 27, 2024 · Conclusion COL4A1/COL4A2 mutations typically cause a severe neurologic condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. Early identification of … knit eat 2021WebJul 7, 2016 · Most individuals diagnosed with a COL4A1-related disorder have an affected parent. The proportion of cases caused by a de novopathogenic variant is estimated to … red curry pot roastWebApr 11, 2024 · GeneReviews®: COL4A1-Related Disorders Boyce, D., McGee, S., Shank, L., Pathak, S., & Gould, D. (2024). Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry. Epilepsy & … red curry powder mccormickWebSep 2, 2024 · Genetics. Two studies reported the yield of genetic testing in pediatric stroke populations: 10.5% (3 mutations in ABCC6 [ATP binding cassette subfamily C member 6] and one in COL4A1 [collagen type IV alpha 1 chain]) for a 15-gene panel among 38 children with hemorrhagic and ischemic stroke, many with vasculopathies 20; 12% to 32% … red curry pregnancyWebCOL4A2-AS2 View Gene Facts 0 Gene-Disease Validity Classifications. 0 Dosage Sensitivity Classifications ... Follow Gene. Gene Facts External Data Attribution HGNC Symbol COL4A2-AS2 (HGNC:39849) HGNC Entrez Ensembl UCSC GeneReviews LOVD LSDB ClinVar HGNC Name COL4A2 antisense RNA 2 Gene type non-coding RNA … red curry pork recipes