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Rabbit Anti-FAM134B/FITC Conjugated antibody
background:
Required for long-term survival of nociceptive and autonomic ganglion neurons.
Function:
Required for long-term survival of nociceptive and autonomic ganglion neurons.
Subcellular Location:
Golgi apparatus; cis-Golgi network membrane.
DISEASE:
Defects in FAM134B are the cause of hereditary sensory and autonomic neuropathy type 2B (HSAN2B) [MIM:613115]. A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response.
Similarity:
Belongs to the FAM134 family.
Database links:
Entrez Gene: 54463 Human
Entrez Gene: 66270 Mouse
Entrez Gene: 619558 Rat
Omim: 613114 Human
SwissProt: Q9H6L5 Human
SwissProt: Q8VE91 Mouse
SwissProt: Q5FVM3 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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