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- Table of Contents
Facts about Ras-related protein Rab-40A-like.
.
Human | |
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Gene Name: | RAB40AL |
Uniprot: | P0C0E4 |
Entrez: | 282808 |
Belongs to: |
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small GTPase superfamily |
Ras-related protein Rab-40A-like
Mass (kDA):
31.239 kDA
Human | |
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Location: | Xq22.1 |
Sequence: | X; NC_000023.11 (102937272..102938300) |
Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain. Expressed in fetal brain and kidney.
Membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm. Mitochondrion.
PMID: 12145744 by Saito-Ohara F., et al. The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.
PMID: 22581972 by Bedoyan J.K., et al. Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.