Gene: TUBB3

Alternate names for this Gene: CDCBM|CDCBM1|CFEOM3|CFEOM3A|FEOM3|TUBB4|beta-4

Gene Summary: This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: tubulin beta 3 class III

Type of Gene: protein-coding

Gene: MC1R

Alternate names for this Gene: CMM5|MSH-R|SHEP2

Gene Summary: This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: melanocortin 1 receptor

Type of Gene: protein-coding