protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene. This gene...
4 KB (504 words) - 03:35, 8 March 2022
ARL9; ARL10A; ARL10B; ARL10C; ARL11; ARL13A; ARL13B; ARL14; ARL15; ARL16; ARL17; TRIM23, ARL4D; ARFRP1; ARL13B Ran nuclear transport RAN Rheb mTOR pathway...
6 KB (291 words) - 12:53, 5 November 2021
TMEM67 8q22.1 Autosomal recessive JBTS7 611560 RPGRIP1L 16q12.2 JBTS8 612291 ARL13B 3q11.1 JBTS9 612285 CC2D2A 4p15.32 Autosomal recessive JBTS10 300804 OFD1...
18 KB (1,543 words) - 12:28, 11 June 2024
Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9 Juvenile-onset dystonia ACTB...
42 KB (983 words) - 18:14, 6 October 2024
Q8N8L6 1031 ARL11 HGNC:24046 Q969Q4 1032 ARL13A HGNC:31709 Q5H913 1033 ARL13B HGNC:25419 Q3SXY8 1034 ARL14 HGNC:22974 Q8N4G2 1035 ARL14EP HGNC:26798 Q8N8R7...
277 KB (17 words) - 18:34, 6 October 2024
syndrome 213300 INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, BRCC3 Brain Leber congenital amaurosis 204000 GUCY2D, RPE65 McKusick–Kaufman...
35 KB (2,499 words) - 18:40, 12 July 2024
mutated. Caenorhabditis elegans Arl13b requires a RVxP motif to localize to cilia, a property shared by human ARL13B but in the latter case a coiled-coil...
14 KB (1,462 words) - 04:36, 26 April 2024
ARL2 ARL2L1 ARL3 ARL4A ARL4C ARL4D ARL5 ARL5A ARL5B ARL10 ARL11 ARL13A ARL13B ARL14 ARL15 ARL16 ARL17 ARL6 ARL7 ARL8A ARL8B ARL9 MGC57346 SAR1A SAR1B...
8 KB (916 words) - 15:25, 28 July 2024
TMEM67 Joubert syndrome 7; 611560; RPGRIP1L Joubert syndrome 8; 612291; ARL13B Joubert syndrome 9; 612285; CC2D2A Joubert syndrome-3; 608629; AHI1 Juvenile...
234 KB (18,877 words) - 15:43, 9 May 2024