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Family with sequence similarity 134, member B

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] (from NCBI)
Top mentioned proteins: CAN, POLYMERASE, AGE, V1a, serine palmitoyltransferase
Papers on Fam134b
Regulation of endoplasmic reticulum turnover by selective autophagy.
Dikic et al., Frankfurt am Main, Germany. In Nature, Jul 2015
Downregulation of FAM134B protein in human cells causes an expansion of the ER, while FAM134B overexpression results in ER fragmentation and lysosomal degradation.
Receptor-mediated selective autophagy degrades the endoplasmic reticulum and the nucleus.
Nakatogawa et al., Yokohama, Japan. In Nature, Jul 2015
Atg40 is probably the functional counterpart of FAM134B, an autophagy receptor for the ER in mammals that has been implicated in sensory neuropathy.
The novel gene pFAM134B positively regulates fat deposition in the subcutaneous fat of Sus scrofa.
Wang et al., Hangzhou, China. In Biochem Biophys Res Commun, 2014
which was named porcine FAM134B (pFAM134B) and the pFAM134B mRNA levels of SAT was significantly higher in Jinhua pigs than that in Landrace pigs at 90d (P<0.01).
The roles of JK-1 (FAM134B) expressions in colorectal cancer.
Lam et al., Gold Coast, Australia. In Exp Cell Res, 2014
To conclude, JK-1(FAM134B) mRNA expression and JK1 (FAM134B) protein levels varied with the different stages of progression of colorectal tumours.
JK1 (FAM134B) represses cell migration in colon cancer: a functional study of a novel gene.
Lam et al., Gold Coast, Australia. In Exp Mol Pathol, 2014
BACKGROUND: JK1 is a novel cancer-related gene with unknown functional role in carcinogenesis.
JK1 (FAM134B) gene and colorectal cancer: a pilot study on the gene copy number alterations and correlations with clinicopathological parameters.
Lam et al., Gold Coast, Australia. In Exp Mol Pathol, 2014
AIMS: The aims of the study are to characterize changes in JK-1 (FAM134B) at the DNA level in colorectal adenocarcinoma and adenoma and exploring the possible correlations with clinical and pathological features.
Genetic analysis of an allergic rhinitis cohort reveals an intercellular epistasis between FAM134B and CD39.
Rotzschke et al., Singapore, Singapore. In Bmc Med Genet, 2013
Epistasis analysis revealed that, in conjunction with a SNP upstream of the FAM134B gene (rs257174), it increased the risk of allergic rhinitis (P = 1.98 × 10-6).
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Reilly et al., London, United Kingdom. In J Neurol, 2012
To study the frequency of mutations in these genes and the associated phenotypes, we screened 140 index patients in our inherited neuropathy cohort with a clinical diagnosis of HSAN for mutations in the coding regions of SPTLC1, RAB7, WNK1/HSN2, FAM134B, NTRK1 (TRKA) and NGFB.
Mutation in FAM134B causing severe hereditary sensory neuropathy.
Reilly et al., In J Neurol Neurosurg Psychiatry, 2012
case report of homozygous nonsense mutation p.Q145X causing severe hereditary sensory neuropathy
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
Rouleau et al., Montréal, Canada. In Am J Hum Genet, 2011
Although mutations in FAM134B and the HSN2 exon of WNK1 were associated with HSANII, the etiology of a substantial number of cases remains unexplained.
Learning biomarkers of pluripotent stem cells in mouse.
Fuellen et al., Osnabrück, Germany. In Dna Res, 2011
The best biomarker based on the GA/SVM wrapper approach alone is Fam134b, possibly a missing link between pluripotency and some standard surface markers of unknown function processed by the Golgi apparatus.
A strong synergistic epistasis between FAM134B and TNFRSF19 on the susceptibility to vascular dementia.
Lee et al., Seoul, South Korea. In Psychiatr Genet, 2011
The FAM134B and TNFRSF19 showed a dramatically strong synergistic epistasis in explaining the genetic dissection of the susceptibility to complex vascular dementia.
Hereditary Sensory and Autonomic Neuropathy Type II
Kurth, Seattle, United States. In Unknown Journal, 2010
DIAGNOSIS/TESTING: Diagnosis is based on clinical findings and molecular genetic testing of WNK1 (previously HSN2) (type HSAN2A), FAM134B (type HSAN2B), KIF1A (type HSAN2C), and SCN9A (type HSAN2D), the only genes in which mutation is known to cause HSAN2.
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Hübner et al., Hamburg, Germany. In Nat Genet, 2009
show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause hereditary sensory and autonomic neuropathy type II.
Oncogenic properties of a novel gene JK-1 located in chromosome 5p and its overexpression in human esophageal squamous cell carcinoma.
Tang et al., Hong Kong, Hong Kong. In Int J Mol Med, 2007
The overexpression of JK-1(FAM134b) and its transforming capacity in normal cells may play a critical role in the molecular pathogenesis of esophageal squamous cell carcinoma.
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