Alstrom syndrome 1 also known as ALMS1 is a protein which in humans is encoded by the ALMS1 gene. The gene is located on the short arm of chromosome 2...
5 KB (536 words) - 02:49, 29 November 2023
gene ALMS1, which is involved in the formation of cellular cilia, making Alström syndrome a ciliopathy. At least 239 disease-causing mutations in ALMS1 have...
26 KB (2,906 words) - 20:42, 25 September 2024
Ukawa, Hisashi; Matsumoto, Yuki (18 April 2023). "Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy...
32 KB (3,406 words) - 22:13, 26 October 2024
ALMS1, centrosome and basal body associated protein is a protein that in humans is encoded by the ALMS1 gene. This gene encodes a protein containing a...
5 KB (657 words) - 07:32, 29 January 2023
encoding protein AF4/FMR2 family member 3 AFTPH: encoding protein Aftiphilin ALMS1: Alstrom syndrome 1 ABCG5 and ABCG8: ATP-binding cassette, subfamily A,...
40 KB (2,534 words) - 05:56, 28 July 2024
Angel-shaped phalango-epiphyseal dysplasia GDF5 dominant Alström syndrome ALMS1 1:8,600,000 Alzheimer's disease PSEN1, PSEN2, APP, APOEε4 1:177 Amelogenesis...
42 KB (983 words) - 18:14, 6 October 2024
phototransduction (converting light into electrical signals for the brain); ALMS1, CCT2, CEP290, CLUAP1, IFT140, IQCB1, LCA5, MYO7A, RD3, RPGRIP1, SPATA7...
17 KB (1,751 words) - 15:47, 7 September 2024
HGNC:21306 Q9BT30 586 ALKBH8 HGNC:25189 Q96BT7 587 ALLC HGNC:17377 Q8N6M5 588 ALMS1 HGNC:428 Q8TCU4 589 ALOX5 HGNC:435 P09917 590 ALOX5AP HGNC:436 P20292 591...
277 KB (17 words) - 18:34, 6 October 2024
Condition OMIM Gene(s) Systems/organs affected Alström syndrome 203800 ALMS1 Asphyxiating thoracic dysplasia (Jeune syndrome) 208500 Bardet–Biedl syndrome...
35 KB (2,499 words) - 18:40, 12 July 2024
genes. Orthologs of FAM149A include BRTD and its four isoforms, ECCHC11 and ALMS1. These genes are all found in humans and have conserved areas with FAM149A...
18 KB (1,841 words) - 09:07, 10 March 2024