Trafficking protein particle complex 9 is a protein that in humans is encoded by the TRAPPC9 gene. [5]
Trafficking protein particle complex 9 is a protein that in humans is encoded by the TRAPPC9 gene. [5]
This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.
Arachidonate 5-lipoxygenase-activating protein also known as 5-lipoxygenase activating protein, or FLAP, is a protein that in humans is encoded by the ALOX5AP gene.
Tyrosine-protein kinase transmembrane receptor ROR2 also known as neurotrophic tyrosine kinase, receptor-related 2, is a protein that in humans is encoded by the ROR2 gene located on position 9 of the long arm of chromosome 9. This protein is responsible for aspects of bone and cartilage growth. It is involved in Robinow syndrome and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine kinase-like orphan receptor (ROR) family.
DNA replication licensing factor MCM3 is a protein that in humans is encoded by the MCM3 gene.
Low-density lipoprotein receptor adapter protein 1 is a protein that in humans is encoded by the LDLRAP1 gene.
Delta-sarcoglycan is a protein that in humans is encoded by the SGCD gene.
Gamma-sarcoglycan is a protein that in humans is encoded by the SGCG gene. The α to δ-sarcoglycans are expressed predominantly (β) or exclusively in striated muscle. A mutation in any of the sarcoglycan genes may lead to a secondary deficiency of the other sarcoglycan proteins, presumably due to destabilisation of the sarcoglycan complex. The disease-causing mutations in the α to δ genes cause disruptions within the dystrophin-associated protein (DAP) complex in the muscle cell membrane. The transmembrane components of the DAP complex link the cytoskeleton to the extracellular matrix in adult muscle fibres, and are essential for the preservation of the integrity of the muscle cell membrane.
SUMO-activating enzyme subunit 1 is a protein that in humans is encoded by the SAE1 gene.
RNA-binding protein Musashi homolog 1 also known as Musashi-1 is a protein that in humans is encoded by the MSI1 gene.
Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.
Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.
E3 ubiquitin-protein ligase UBR4 is an enzyme that in humans is encoded by the UBR4 gene.
Polypeptide N-acetylgalactosaminyltransferase-like protein 2 is an enzyme that in humans is encoded by the GALNTL2 gene.
Probable carboxypeptidase X1 is an enzyme that in humans is encoded by the CPXM1 gene.
Acetyl-CoA acetyltransferase, cytosolic, also known as cytosolic acetoacetyl-CoA thiolase, is an enzyme that in humans is encoded by the ACAT2 gene
Espin, also known as autosomal recessive deafness type 36 protein or ectoplasmic specialization protein, is a protein that in humans is encoded by the ESPN gene. Espin is a microfilament binding protein.
Synaptotagmin XIV is a protein that in humans is encoded by the SYT14 gene.
Tetraspanin 9 is a protein that in humans is encoded by the TSPAN9 gene.
Family with sequence similarity 19 member A4, C-C motif chemokine like is a protein that in humans is encoded by the FAM19A4 gene.
Sidekick cell adhesion molecule 1 is a protein that in humans is encoded by the SDK1 gene.
Disco interacting protein 2 homolog C is a protein that in humans is encoded by the DIP2C gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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