humans is encoded by the PAFAH1B1 gene. The protein plays an important role in regulating the motor protein dynein. PAFAH1B1 was identified as encoding...
13 KB (1,513 words) - 08:56, 16 June 2024
The known genetic and viral causes are listed below: LIS1 (also known as PAFAH1B1) is the most widely studied. LIS1 is located on chromosome 17p13.3. LIS1...
24 KB (2,536 words) - 17:29, 27 August 2024
[citation needed] MDS is a microdeletion syndrome involving loss of the gene PAFAH1B1 on chromosome 17 which is responsible for the syndrome's characteristic...
13 KB (1,732 words) - 05:41, 11 September 2023
additional light chains. Other well known adaptors and regulators are Dynactin, PAFAH1B1 and CDC5L. Defects in axonal transport, of which dynein plays a key role...
17 KB (1,902 words) - 09:10, 9 October 2024
mitosis, and chromosome segregation. LIS1 encodes for a 45kDa protein called PAFAH1B1 that contains seven WD40 repeats required for proper neuronal migration...
19 KB (2,375 words) - 13:15, 25 July 2024
(collagen type I alpha 2 chain), COL3A1 (collagen type III alpha 1 chain), PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), SERPINH1...
26 KB (2,954 words) - 12:23, 20 September 2024
Q6TGC4 11645 PAEP HGNC:8573 P09466 11646 PAF1 HGNC:25459 Q8N7H5 11647 PAFAH1B1 HGNC:8574 P43034 11648 PAFAH1B2 HGNC:8575 P68402 11649 PAFAH1B3 HGNC:8576...
282 KB (17 words) - 18:42, 6 October 2024
cord, and dorsal root ganglia. TUBA1A has been shown to interact with PAFAH1B1. Keays et al. describe a mouse with a mutation of the TUBA1A gene induced...
13 KB (1,670 words) - 06:11, 29 September 2024
MED16, MORG1, NBEA, NBEAL1, NEDD1, NLE1, NSMAF, NUP37, NUP43, NWD1, PAAF1, PAFAH1B1, PAK1IP1, PEX7, PHIP, PIK3R4, PLAA, PLRG1, PPP2R2A, PPP2R2B, PPP2R2C, PPP2R2D...
13 KB (958 words) - 04:46, 26 August 2024
encoded by the PAFAH1B2 gene. PAFAH1B2 has been shown to interact with PAFAH1B1. PAFAH1B1 PAFAH1B3 GRCh38: Ensembl release 89: ENSG00000168092 – Ensembl, May...
6 KB (727 words) - 06:40, 7 January 2024
having an important role in lissencephaly and accordingly called LIS1 (PAFAH1B1), was shown to interact with the intracellular segment of VLDLR, thus reacting...
140 KB (15,028 words) - 06:28, 5 August 2024
range of different sizes. Doublecortin has been shown to interact with PAFAH1B1. Doublecortin is mutated in X-linked lissencephaly and the double cortex...
16 KB (1,896 words) - 08:42, 16 June 2024
the PAFAH1B3 gene. PAFAH1B3 has been shown to interact with PAFAH1B1 and LNX1. PAFAH1B1 PAFAH1B2 GRCh38: Ensembl release 89: ENSG00000079462 – Ensembl...
6 KB (730 words) - 07:59, 18 August 2023
interaction between the Katanin P80 subunit (encoded by KATNB1) and LIS1 (a.k.a. PAFAH1B1), a protein mutated in type 1 lissencephaly. Missense mutation in ACTG1...
29 KB (2,704 words) - 14:13, 18 July 2024
NDEL1 has been shown to interact with Cyclin-dependent kinase 5, YWHAE, PAFAH1B1 and DISC1. GRCh38: Ensembl release 89: ENSG00000166579 – Ensembl, May 2017...
16 KB (2,014 words) - 02:50, 6 May 2024
encoded by the NUDC gene. NUDC has been shown to interact with PLK1 and PAFAH1B1. GRCh38: Ensembl release 89: ENSG00000090273 – Ensembl, May 2017 GRCm38:...
8 KB (1,087 words) - 23:40, 6 April 2024
300215; ARX Lissencephaly, X-linked; 300067; DCX Lissencephaly-1; 607432; PAFAH1B1 Liver failure, acute infantile; 613070; TRMU Loeys–Dietz syndrome, type...
234 KB (18,877 words) - 15:43, 9 May 2024
been shown to interact with IQGAP1, Mammalian target of rapamycin and PAFAH1B1. GRCh38: Ensembl release 89: ENSG00000130779 – Ensembl, May 2017 GRCm38:...
9 KB (1,099 words) - 08:59, 16 June 2024