AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene. This gene encodes a subunit of the heterotetrameric AP-4 complex....
6 KB (680 words) - 08:48, 10 January 2024
Type OMIM Gene Locus CPSQ1 603513 GAD1 2q31 CPSQ2 612900 ANKRD15 9p24.3 CPSQ3 612936 AP4M1 7q22.1...
11 KB (1,217 words) - 16:52, 7 April 2025
spastic paraplegia (infantile-onset ascending hereditary spastic paralysis) AP4M1, AP4S1, AP4B1, AP4E1 autosomal dominant, autosomal recessive or X-linked...
43 KB (995 words) - 23:45, 24 May 2025
decade SPG49 615041 TECPR2 14q32.31 Autosomal recessive Infancy SPG50 612936 AP4M1 7q22.1 Autosomal recessive Infancy SPG51 613744 AP4E1 15q21.2 Autosomal...
36 KB (3,347 words) - 12:57, 12 May 2025
AP3B2 AP3D1 AP3M1 AP3M2 AP3S1 AP3S2 Adaptor protein complex 4: AP4B1 AP4E1 AP4M1 AP4S1 LMAN1 LYST BLOC-1: DTNBP1 BLOC153 BLOC-2: HPS3 HPS5 HPS6 BLOC-3: HPS1...
54 KB (6,592 words) - 13:34, 24 May 2025
HGNC:571 P59780 816 AP4B1 HGNC:572 Q9Y6B7 817 AP4E1 HGNC:573 Q9UPM8 818 AP4M1 HGNC:574 O00189 819 AP4S1 HGNC:575 Q9Y587 820 AP5B1 HGNC:25104 Q2VPB7 821...
277 KB (17 words) - 18:34, 6 October 2024
complex 3 AP3B1 AP3B2 AP3D1 AP3M1 AP3M2 AP3S1 AP3S2 complex 4 AP4B1 AP4E1 AP4M1 AP4S1 complex 5 AP5Z1 AP5B1 AP5M1 AP5S1 A diagram of the 5 complexes is...
3 KB (268 words) - 19:45, 9 February 2024
beta-4 (AP4B1) and epsilon-4 (AP4E1; this gene), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1). It is currently hypothesized that...
3 KB (375 words) - 00:00, 29 November 2023
syndrome; 609528; SNAP29 Cerebral palsy, spastic quadriplegic, 3; 612936; AP4M1 Cerebral palsy, spastic quadriplegic; 612900; KANK1 Cerebral palsy, spastic...
234 KB (18,877 words) - 18:07, 24 March 2025
large chains, beta-4 (AP4B1) and epsilon-4 (AP4E1), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1, this gene). Deficiency of AP-4 leads...
2 KB (303 words) - 14:26, 2 December 2021
(AP4E1), a medium chain, mu-4 (AP4M1), and a small chain, sigma-4 (AP4S1) AP4B1 has been shown to interact with AP4M1. AP4-complex-mediated trafficking...
5 KB (670 words) - 13:17, 11 October 2022