humans is encoded by the PAFAH1B1 gene. The protein plays an important role in regulating the motor protein dynein. PAFAH1B1 was identified as encoding...

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...

[citation needed] MDS is a microdeletion syndrome involving loss of the gene PAFAH1B1 on chromosome 17 which is responsible for the syndrome's characteristic...

mitosis, and chromosome segregation. LIS1 encodes for a 45kDa protein called PAFAH1B1 that contains seven WD40 repeats required for proper neuronal migration...

(collagen type I alpha 2 chain), COL3A1 (collagen type III alpha 1 chain), PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), SERPINH1...

MED16, MORG1, NBEA, NBEAL1, NEDD1, NLE1, NSMAF, NUP37, NUP43, NWD1, PAAF1, PAFAH1B1, PAK1IP1, PEX7, PHIP, PIK3R4, PLAA, PLRG1, PPP2R2A, PPP2R2B, PPP2R2C, PPP2R2D...

range of different sizes. Doublecortin has been shown to interact with PAFAH1B1. Doublecortin is mutated in X-linked lissencephaly and the double cortex...

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...

NDEL1 has been shown to interact with Cyclin-dependent kinase 5, YWHAE, PAFAH1B1 and DISC1. GRCh38: Ensembl release 89: ENSG00000166579 – Ensembl, May 2017...

having an important role in lissencephaly and accordingly called LIS1 (PAFAH1B1), was shown to interact with the intracellular segment of VLDLR, thus reacting...

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...

encoded by the NUDC gene. NUDC has been shown to interact with PLK1 and PAFAH1B1. GRCh38: Ensembl release 89: ENSG00000090273 – Ensembl, May 2017 GRCm38:...

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...

been shown to interact with IQGAP1, Mammalian target of rapamycin and PAFAH1B1. GRCh38: Ensembl release 89: ENSG00000130779 – Ensembl, May 2017 GRCm38:...

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...

300215; ARX Lissencephaly, X-linked; 300067; DCX Lissencephaly-1; 607432; PAFAH1B1 Liver failure, acute infantile; 613070; TRMU Loeys–Dietz syndrome, type...

the PAFAH1B3 gene. PAFAH1B3 has been shown to interact with PAFAH1B1 and LNX1. PAFAH1B1 PAFAH1B2 GRCh38: Ensembl release 89: ENSG00000079462 – Ensembl...

encoded by the PAFAH1B2 gene. PAFAH1B2 has been shown to interact with PAFAH1B1. PAFAH1B1 PAFAH1B3 GRCh38: Ensembl release 89: ENSG00000168092 – Ensembl, May...