GNB4 gene

G protein subunit beta 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]

From UniProt:

Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

From NCBI Gene:

  • Charcot-Marie-Tooth disease, dominant intermediate F

From UniProt:

Charcot-Marie-Tooth disease, dominant, intermediate type, F (CMTDIF): A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range. [MIM:615185]

Cytogenetic Location: 3q26.33, which is the long (q) arm of chromosome 3 at position 26.33

Molecular Location: base pairs 179,396,088 to 179,451,583 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3q26.33, which is the long (q) arm of chromosome 3 at position 26.33
  • CMTD1F