protein that in humans is encoded by the PEX6 gene. PEX6 is an AAA ATPase that localizes to the peroxisome. PEX6 forms a hexamer with PEX1 and is recruited...
11 KB (1,393 words) - 23:03, 28 January 2023
peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes. These gene are involved in peroxisome biogenesis. PEX 1 is located...
3 KB (319 words) - 15:26, 12 October 2024
peroxisomes. Most commonly, patients have mutations in the PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, or PEX26 genes. In almost all...
14 KB (1,378 words) - 09:58, 25 July 2024
and retinopathy. PBD-ZSD is most commonly caused by mutations in the PEX1, PEX6, PEX10, PEX12, and PEX26 genes. This results in the over-accumulation of...
8 KB (578 words) - 19:15, 22 July 2024
proteins, for example Peroxisomal biogenesis factor 11. PEX1 PEX2 PEX3 PEX5 PEX6 PEX7 PEX10 PEX11A, PEX11B, PEX11G PEX12 PEX13 PEX14 PEX16 PEX19 PEX26 Crookes...
2 KB (133 words) - 18:24, 25 December 2023
XYYYY syndrome (49,XYYYY) Y 1:1,000,000 males Zellweger syndrome PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 recessive...
42 KB (983 words) - 18:14, 6 October 2024
Genes that encode peroxin proteins include: PEX1, PEX2 (PXMP3), PEX3, PEX5, PEX6, PEX7, PEX9, PEX10, PEX11A, PEX11B, PEX11G, PEX12, PEX13, PEX14, PEX16, PEX19...
33 KB (3,863 words) - 06:13, 27 July 2024
syndrome. PEX1 has been shown to interact with PEX6 and PEX26. Mutations in the genes encoding PEX1, along with PEX6, are the leading causes of peroxisomal biogenesis...
11 KB (1,212 words) - 07:43, 4 January 2024
peroxisome assembly. Most commonly, patients have mutations in the PEX1, PEX3, PEX6, PEX12, and PEX26 genes. In almost all cases, patients have mutations that...
9 KB (866 words) - 16:03, 28 October 2024
KATNA1; KATNAL1; KATNAL2; LONP1; LONP2; MDN1; NSF; NVL; ORC1; ORC4; PEX1; PEX6; PSMC1; PSMC2 (Nbla10058); PSMC3; PSMC4; PSMC5; PSMC6; RFC1; RFC2; RFC3;...
12 KB (1,352 words) - 12:48, 16 September 2024
an ATP dependent removal involving the cytosolic protein complex pex1 and pex6. The cycle for pex5 mediated import into the peroxisomal matrix is restored...
53 KB (6,404 words) - 17:09, 30 September 2024
HGNC:8858 P56589 11968 PEX5 HGNC:9719 P50542 11969 PEX5L HGNC:30024 Q8IYB4 11970 PEX6 HGNC:8859 Q13608 11971 PEX7 HGNC:8860 O00628 11972 PEX10 HGNC:8851 O60683...
282 KB (17 words) - 18:42, 6 October 2024
is encoded by the PEX26 gene. PEX26 has been shown to interact with PEX1, PEX6 and SUFU. GRCh38: Ensembl release 89: ENSG00000215193 – Ensembl, May 2017...
6 KB (785 words) - 02:05, 3 December 2023