| RAB27A, member RAS oncogene family | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | RAB27A | ||||||
| NCBI gene | 5873 | ||||||
| HGNC | 9766 | ||||||
| OMIM | 603868 | ||||||
| RefSeq | NM_004580 | ||||||
| UniProt | P51159 | ||||||
| Other data | |||||||
| Locus | Chr. 15 q21 | ||||||
| |||||||
| RAB27B, member RAS oncogene family | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | RAB27B | ||||||
| NCBI gene | 5874 | ||||||
| HGNC | 9767 | ||||||
| OMIM | 603869 | ||||||
| RefSeq | NM_004163 | ||||||
| UniProt | O00194 | ||||||
| Other data | |||||||
| Locus | Chr. 18 q21.2 | ||||||
| |||||||
Rab27 is a member of the Rab subfamily of GTPases. Rab27 is post translationally modified by the addition of two geranylgeranyl groups on the two C-terminal cysteines.
Mutations that prevent the expression of Rab27 ('knock out' mutations) cause the hypopigmentation and immunodeficiency disorder known as type II Griscelli syndrome, while a decrease in Rab27 prenylation is thought to be involved in choroideremia.
The symptoms of type II Griscelli syndrome have shown that Rab27 is involved in melanosome transport in melanocytes and in cytotoxic killing activity in cytotoxic T lymphoblasts. In melanocytes Rab27 binds the melanosome. The melanosome is transported along the microtubule. Rab27 then recruits Slac2A and myosin Va, these enzymes are essential for the transfer of the melanosomes from the microtubules to actin filaments. The melanosomes can now continue on their path towards the cell periphery. If either Rab27, Slac2A or myosin Va are absent then the melanosomes remain in the perinuclear region of the cell. This disruption in pigmentation results in the hypopigmentation seen in the silvery hair colour of patients with Griscelli syndrome.
 | This biochemistry article is a stub. You can help Wikipedia by expanding it. |
Béguez-Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.
Motor proteins are a class of molecular motors that can move along the cytoplasm of animal cells. They convert chemical energy into mechanical work by the hydrolysis of ATP. Flagellar rotation, however, is powered by a proton pump.
Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli Syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, Type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities.
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the MITF gene.
Hemophagocytic lymphohistiocytosis (HLH), also known as haemophagocytic lymphohistiocytosis, and hemophagocytic or haemophagocytic syndrome, is an uncommon hematologic disorder seen more often in children than in adults. It is a life-threatening disease of severe hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and macrophages, characterised by proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. It is classified as one of the cytokine storm syndromes. There are inherited and non-inherited (acquired) causes of hemophagocytic lymphohistiocytosis (HLH).
Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.
Melanophilin is a carrier protein which in humans is encoded by the MLPH gene. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. In humans it is coded for by the MYO5A gene.
Ras-related protein Rab-7a is a protein that in humans is encoded by the RAB7A gene.
Membrane-bound transcription factor site-2 protease, also known as S2P endopeptidase or site-2 protease (S2P), is an enzyme encoded by the MBTPS2 gene which liberates the N-terminal fragment of sterol regulatory element-binding protein (SREBP) transcription factors from membranes. S2P cleaves the transmembrane domain of SREPB, making it a member of the class of intramembrane proteases.
Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.
Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.
Synaptotagmin-like protein 1 is a protein that in humans is encoded by the SYTL1 gene.
Ras-related protein Rab-40A is a protein that in humans is encoded by the RAB40A gene.
Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.
Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.
Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.
Lavender or self-blue refers to a plumage color pattern in the chicken characterized by a uniform, pale bluish grey color across all feathers. The distinctive color is caused by the action of an autosomal recessive gene, commonly designated as "lav", which reduces the expression of eumelanin and phaeomelanin so that black areas of the plumage appear pale grey instead, and red areas appear a pale buff.
Sodium-dependent phosphate transport protein 2A, also known as Na+-Pi cotransporter 2a (NaPi-2a), is a protein in humans that is encoded by the SLC34A1 gene. This gene encodes a member of the type II sodium-phosphate cotransporter family.
