Hermansky-Pudlak syndrome 6 (HPS6) also known as ruby-eye protein homolog (Ru) is a protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 that in humans is encoded by the HPS6 gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

.

Function

This intron

Intron

An intron is any nucleotide sequence within a gene that is removed by RNA splicing to generate the final mature RNA product of a gene. The term intron refers to both the DNA sequence within a gene, and the corresponding sequence in RNA transcripts. Sequences that are joined together in the final...

less gene encodes a protein that may play a role in organelle biogenesis

Biogenesis

Biogenesis is the law that living things come only from other living things, e.g. a spider lays eggs, which develop into spiders. It may also refer to biochemical processes of production in living organisms.-Spontaneous generation:...

 associated with melanosome

Melanosome

In a biological cell, a melanosome is an organelle containing melanin, the most common light-absorbing pigment found in the animal kingdom.Cells that synthesize melanins are called melanocytes, and also the retinal pigment epithelium cells, whereas cells that have merely engulfed the melanosomes...

s, platelet dense granules, and lysosome

Lysosome

thumb|350px|Schematic of typical animal cell, showing subcellular components. [[Organelle]]s: [[nucleoli]] [[cell nucleus|nucleus]] [[ribosomes]] [[vesicle |vesicle]] rough [[endoplasmic reticulum]]...

s. HPS6 along with HPS3

HPS3

Hermansky-Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3 gene.-External Links:* -Further reading:...

 and HPS5

HPS5

Hermansky-Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.-External Links:* -Further reading:...

 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).

Clinical significance

Mutations in this gene are associated with Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome

Hermansky–Pudlak syndrome is a rare autosomal recessive disorder which results in oculocutaneous albinism , bleeding problems due to a platelet abnormality , and storage of an abnormal fat-protein compound .There are eight classic forms of the disorder, based on the genetic mutation...

type 6 characterized by albinism and prolonged bleeding.

External Links

• GeneReviews/NCBI/NIH/UW entry on Hermansky-Pudlak Syndrome