Ourcome in very different sizes. 2 carries the which codes for the largest , known as titin.
ACTR3:coding for an actin, a involved in motility… but also in repair by promoting motility of damaged .
EPAS1:coding for a that regulates the response to oxygen deprivation (hypoxia) and adaptation to altitude. Genetic variations of this in Tibetan individuals, inherited from Denisovans, could facilitate their adaptation to high-altitude environments.
PIKFYVE:coding for a required for entry of coronaviruses SARS-CoV and SARS-CoV-2. This is the target of potential anti-COVID19 drugs.
EDAR:involved in hair formation.
ACTR2:coding for an actin, a involved in motility… but also in repair by promoting motility of damaged .
ASTL: One of this’s roles is to prevent an egg from being fertilized by more than one sperm.
PER2: Thisis involved in our daily biological rhythms.
TRPM8: Thisis involved in the perception of cold.
HTR2B: Thisis associated with impulsive behaviour. This codes for one of the LSD .
DES: Thisis involved in our heartbeat.
MSTN: Thiscodes for the myostatin which is involved in muscle development. A German boy, nicknamed ‘Popeye’, was born with a non-functional myostatin ; at the age of 7 months his muscles were already twice as big as those of other children his age.
SCN9A: Thisis involved in the perception of pain.
ACVR1: Thisis associated with the Stone Man Syndrome.
LCT: Thiscodes for a that digests lactose.
LRRTM1: Thisis involved in right-handedness versus left-handedness.
RTN4: Thisis involved in blocking regeneration.
CALM2: Thiscodes for the calmodulin which senses changes in calcium concentration and transmits the information to other . CALM2 is involved in the embryonic development of craniofacial structures.
SPAST: Thisis involved in path development and associated with a severe form of paraplegia.
SRD5A2: Thisis involved in sexual differentiation.
PPP1CB: Thisis involved in memory and forgetfulness.
PER3: Thisis involved in our daily biological rhythms. Variations in this are linked with our vulnerability to sleep deprivation
PPP1CB: Thisis involved in the faculty to learn but also to forget, so that our memory never overloads.