KIF1B Gene

Definition:Kinesin family member 1B


Official Symbol:KIF1B

 Chromosome:1


 Location : 1p36.2


Gene Size: 170825 bp (REGION: 10193418..10364242)


No Exons:47

Description:

This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors.These proteins are essential for the transport of materials within cells. Kinesin proteins function like freight trains that transport cargo, and their structure is suited for this cargo-carrying function. One part of the protein, called the motor domain, powers the protein and its cargo along a track-like system made from structures called microtubules. Another part of the kinesin protein, which varies among family members, binds to specific materials for transport.

Kinesin Transport Protein

Disease :

Mutations in this gene cause a, type 2A1.One KIF1B gene mutation has been detected in some patients with a form of Charcot-Marie-Tooth disease known as type 2A. The mutation changes one of the protein building blocks (amino acids) in the motor domain of kinesin family member 1B. Specifically, the amino acid glutamine is replaced by the amino acid leucine at protein position 98 (written as Gln98Leu). Although the effect of this mutation is not fully understood, the motor function of the protein and the transport of synaptic vesicles are probably disrupted. Lowered levels of synaptic vesicles at nerve endings could impair the transmission of nerve impulses, causing the symptoms of type 2A Charcot-Marie-Tooth disease.

KCNQ4 Gene

Definition: Potassium voltage-gated channel, KQT-like subfamily, member 4

Official Symbol:KCNQ4

 Chromosome:1

 Location : 1p34

Gene Size: 54677 bp (41022271..41076947)


No Exons:14


Description:

The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene,Potassium channels made with the KCNQ4 protein are found in the inner ear and along part of the nerve pathway from the ear to the brain (auditory pathway). KCNQ4 potassium channels are also found in small numbers in the heart and some muscles.

Disease :

Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene.

Nonsyndromic deafness - caused by mutations in the KCNQ4 gene

    Several KCNQ4 mutations have been reported in individuals with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNA2. Most KCNQ4 mutations change one of the building blocks (amino acids) used to make the KCNQ4 protein. Nearly all of these changes affect the region of the protein that forms the pore or channel opening. As a result, the channel does not function properly and normal potassium ion levels may be disturbed. Two mutations delete part of the KCNQ4 gene, which results in an abnormally small KCNQ4 protein that cannot form functional channels. It is unclear whether deafness results from disturbed potassium levels within the inner ear, alterations in the auditory pathway, or both.