cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene. ABCA12 belongs to a group of genes called the ATP-binding cassette family...
12 KB (1,410 words) - 05:57, 12 November 2024
by scaly skin. Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. This gene codes for a protein necessary for transporting lipids out...
32 KB (3,073 words) - 19:58, 16 November 2024
dermoscopy can be used, as well, if the diagnosis is unclear. Variants of the ABCA12 gene have been associated with KP. KP is the most common disorder of the...
14 KB (1,431 words) - 10:29, 15 July 2024
the following signs and symptoms Tight scaly skin (Ichthyosis) Absence of ABCA12 gene[citation needed] (Ichthyosis) Swollen or puffy gums (Periodontitis/Gingivitis)...
14 KB (1,775 words) - 14:22, 27 October 2023
Type OMIM Gene Locus LI1 242300 TGM1 14 LI2 601277 ABCA12 2q34 LI3 604777 CYP4F22 19p13.12 LI5 606545 CERS3 15q26.3...
9 KB (975 words) - 20:49, 12 November 2024
Partial list of the genes located on q-arm (long arm) of human chromosome 2: ABCA12: ATP-binding cassette, subfamily A (ABC1), member 12 ACTR1B: encoding protein...
40 KB (2,534 words) - 05:56, 28 July 2024
Autosomal recessive ABCA12 Congenital ichthyosiform erythoderma 242100 Autosomal recessive TGMI1, NIPAL4, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN...
14 KB (962 words) - 04:27, 31 October 2024
erythroderma. Known genes involved include TGM1, ALOX12B, ALOXE3, NIPAL4, ABCA12, CYP4F22, LIPN, CERS3, PNPLA1, ST14, and CASP14.[non-primary source needed]...
6 KB (585 words) - 13:56, 15 October 2024
Gustavson syndrome Hailey–Hailey disease ATP2C1 (3) Harlequin type ichthyosis ABCA12 Hemochromatosis type 1 HFE (chromosome 6) recessive . 1:200 (Northern Europe)...
43 KB (995 words) - 08:29, 11 November 2024
different chromosomes. These are ABCA1, ABCA2, ABCA3, and ABCA4, ABCA7, ABCA12, and ABCA13. The other subgroup consists of ABCA5 and ABCA6 and ABCA8, ABCA9...
111 KB (14,443 words) - 02:35, 30 October 2024
ABCA8 HGNC:38 O94911 39 ABCA9 HGNC:39 Q8IUA7 40 ABCA10 HGNC:30 Q8WWZ4 41 ABCA12 HGNC:14637 Q86UK0 42 ABCA13 HGNC:14638 Q86UQ4 43 ABCB1 HGNC:40 P08183 44...
277 KB (17 words) - 18:34, 6 October 2024
mutated in cutaneous conditions Gene Protein product Resulting condition(s) ABCA12 Harlequin ichthyosis Lamellar ichthyosis ABCB1 P glycoprotein ABCC6 Pseudoxanthoma...
12 KB (108 words) - 02:46, 17 September 2022
the antiparallel beta-sheet of armI by a two-fold axis. ABCA1; ABCA10; ABCA12; ABCA13; ABCA2; ABCA3; ABCA4; ABCA5; ABCA6; ABCA7; ABCA8; ABCA9; ABCB1;...
8 KB (752 words) - 05:06, 14 March 2022
hyperkeratosis; 607602; KRT10 Ichthyosis, harlequin; 242500; ABCA12 Ichthyosis, lamellar 2; 601277; ABCA12 Ichthyosis, lamellar, 3; 604777; CYP4F22 Ichthyosis...
234 KB (18,877 words) - 06:16, 6 November 2024