Collagen, type IV, alpha 1 (redirect from COL4A1)
Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the COL4A1 gene on chromosome 13. It is ubiquitously expressed in many tissues...
19 KB (2,484 words) - 16:19, 1 July 2024
stone to multicellularity. There are six human genes associated with it: COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6 Type IV collagen is a type of collagen...
21 KB (2,423 words) - 04:24, 10 August 2024
and infarction. Abnormal gene expression of COL4A1 can contribute to the development of porencephaly. COL4A1 gene expresses a type IV collagen (basement...
18 KB (2,157 words) - 19:20, 2 July 2024
recently lost support. However it has been confirmed that mutations in the COL4A1 gene occur in some patients with schizencephaly. Radiological methods like...
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filtration system in capillaries and the glomeruli of nephron in the kidney. COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6 Alport syndrome, Goodpasture's syndrome...
70 KB (7,693 words) - 15:43, 20 July 2024
breakage syndrome, characterised by microcephaly. Mutations in EMX2, and COL4A1 are associated with schizencephaly, a condition marked by the absence of...
68 KB (7,901 words) - 14:34, 27 August 2024
contractility. Variants in genes including Collagen genes COL1A1, COL1A2, COL3A1, COL4A1, COL5A2, as well as extracellular matrix genes FBN1, FBN2, LOX, MFAP5; TGF-β...
6 KB (631 words) - 05:50, 7 July 2024
LPA, TCF21, MTHFDSL, ZC3HC1, CDKN2A, 2B, ABO, PDGF0, APOA5, MNF1ASM283, COL4A1, HHIPC1, SMAD3, ADAMTS7, RAS1, SMG6, SNF8, LDLR, SLC5A3, MRPS6, KCNE2. The...
130 KB (13,860 words) - 04:10, 27 August 2024
called COL4A1, located at 13q34 (band 34 on the long arm of chromosome 13). These mutations are inherited in an autosomal dominant pattern. COL4A1 codes...
4 KB (413 words) - 21:29, 16 August 2024
aneurysms and muscle cramps syndrome is a rare genetic, multisystemic, COL4A1-related disorder, it is characterized by angiopathy, nephropathy, hematuria...
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HGNC:2198 P08123 3349 COL2A1 HGNC:2200 P02458 3350 COL3A1 HGNC:2201 P02461 3351 COL4A1 HGNC:2202 P02462 3352 COL4A2 HGNC:2203 P08572 3353 COL4A3 HGNC:2204 Q01955...
277 KB (17 words) - 23:17, 27 April 2024
and cellular metabolism. Variants in genes including ALDH18A1, COL3A1, COL4A1, FBN1 and ACVR1 were implicated in a study of 91 unrelated SCAD cases. Given...
26 KB (3,052 words) - 07:31, 17 February 2024
for GPC1 is found on chromosome 2q36. Nearby genes include ZIC2, ZIC3, COL4A1/2, and COL4A3/4. Since 1996, it has been known that patients with Simpson–Golabi–Behmel...
20 KB (2,445 words) - 22:48, 2 December 2023
disease with Axenfeld-Rieger anomaly; 607595; COL4A1 Brain small vessel disease with hemorrhage; 607595; COL4A1 Branchiooculofacial syndrome; 113620; TFAP2A...
234 KB (18,877 words) - 15:43, 9 May 2024