(Family with Sequence Similarity 134, Member B (FAM134B))
The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011].
Tang, Chui, Fatima, Kok, Pak, Ou, Hui, Wong, Wong, Law, Tsao, Lam, Beh, Srivastava, Chan, Ho, Tang: "Oncogenic properties of a novel gene JK-1 located in chromosome 5p and its overexpression in human esophageal squamous cell carcinoma." in: International journal of molecular medicine, Vol. 19, Issue 6, pp. 915-23, (2007) (PubMed).
Aliases for FAM134B 抗体
reticulophagy regulator 1 (RETREG1) 抗体 reticulophagy regulator 1 (Retreg1) 抗体 family with sequence similarity 134, member B (Fam134b) 抗体 1810015C04Rik 抗体 AU015349 抗体 JK-1 抗体 JK1 抗体