SLC25A46 gene

solute carrier family 25 member 46

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

From NCBI Gene:

This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]

From UniProt:

May play a role in mitochondrial dynamics by controlling mitochondrial membrane fission.

From NCBI Gene:

  • NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB

From UniProt:

Neuropathy, hereditary motor and sensory, 6B (HMSN6B): An autosomal recessive neurologic disorder characterized by early-onset optic atrophy, progressive visual loss, and peripheral sensorimotor neuropathy manifesting as axonal Charcot-Marie-Tooth disease, with variable age at onset and severity. Charcot-Marie-Tooth disease is 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. It is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies and primary peripheral axonal neuropathies. Peripheral axonal neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, and normal or slightly reduced nerve conduction velocities. [MIM:616505]

Cytogenetic Location: 5q22.1, which is the long (q) arm of chromosome 5 at position 22.1

Molecular Location: base pairs 110,738,136 to 110,765,161 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q22.1, which is the long (q) arm of chromosome 5 at position 22.1
  • HMSN6B