b(0,+)-type amino acid transporter 1, also known as b(0,+)AT1, is a protein which in humans is encoded by the SLC7A9 gene.
Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32) is a transmembrane protein that in humans is encoded by the GJB1 gene. Gap junction beta-1 protein is a member of the gap junction connexin family of proteins that regulates and controls the transfer of communication signals across cell membranes, primarily in the liver and peripheral nervous system.
Growth arrest-specific protein 3 (GAS-3), also called peripheral myelin protein 22 (PMP22), is a protein which in humans is encoded by the PMP22 gene.
Lipopolysaccharide-induced tumor necrosis factor-alpha factor is a protein that in humans is encoded by the LITAF gene.
Ganglioside-induced differentiation-associated protein 1 is a type of protein that in humans is encoded by the GDAP1 gene.
Periaxin is a protein that in humans is encoded by the PRX gene.
Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.
SH3 domain and tetratricopeptide repeats-containing protein 2 is a protein that in humans is encoded by the SH3TC2 gene. It is believed to be expressed in the Schwann cells that wrap the myelin sheath around nerves.
Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.
Cytochrome c oxidase subunit 6A1, mitochondrial is a protein that in humans is encoded by the COX6A1 gene. Cytochrome c oxidase 6A1 is a subunit of the cytochrome c oxidase complex, also known as Complex IV, the last enzyme in the mitochondrial electron transport chain. A mutation of the COX6A1 gene is associated with a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
FYVE, RhoGEF and PH domain-containing protein 4 is a protein that in humans is encoded by the FGD4 gene.
Neurofilament light polypeptide, also known as neurofilament light chain, is a neurofilament protein that in humans is encoded by the NEFL gene. Neurofilament light chain is a biomarker that can be measured with immunoassays in cerebrospinal fluid and plasma and reflects axonal damage in a wide variety of neurological disorders. It is a useful marker for disease monitoring in amyotrophic lateral sclerosis, multiple sclerosis, Alzheimer's disease, and more recently Huntington's disease. It is also promising marker for follow-up of patients with brain tumors. Higher numbers have been associated with increased mortality.
Calpain-6 is a protein in humans that is encoded by the CAPN6 gene.
Dehydrogenase E1 and transketolase domain containing 1 is a protein that in humans is encoded by the DHTKD1 gene. This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q.
Proteasome subunit alpha 8 also known as proteasome subunit alpha type-7-like is a protein that in humans is encoded by the PSMA8 gene. Proteasome subunit alpha 8 is a component of the sperm specific proteasome.
Ribonuclease H2 subunit C is a protein that in humans is encoded by the RNASEH2C gene. RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits, and degrades the RNA of RNA:DNA hybrids.
Protein phosphatase 1 regulatory subunit 3G is a protein that is encoded by the PPP1R3G gene in humans.
Mediator complex subunit 9 (Med9) is a protein that in humans is encoded by the MED9 gene.
Mitochondrial ribosomal protein S2 (MRPS2), otherwise known as uS2m, is a protein that in humans is encoded by the MRPS2 gene.
Mitochondrial ribosomal protein S9 (MRPS9), otherwise known as uS9m, is a protein that in humans is encoded by the MRPS9 gene.
