Gene: TMEM127

Alternate names for this Gene: -

Gene Summary: This gene encodes a transmembrane protein with 3 predicted transmembrane domains. The protein is associated with a subpopulation of vesicular organelles corresponding to early endosomal structures, with the Golgi, and with lysosomes, and may participate in protein trafficking between these structures. Mutations in this gene and several other genes cause pheochromocytomas. Alternatively spliced transcript variants encoding the same protein have been identified.

Gene is located in Chromosome: 2

Location in Chromosome : 2q11.2

Description of this Gene: transmembrane protein 127

Type of Gene: protein-coding

Gene: CIAO1

Alternate names for this Gene: CIA1|WDR39

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q11.2

Description of this Gene: cytosolic iron-sulfur assembly component 1

Type of Gene: protein-coding

rs121908816 in TMEM127;CIAO1 gene and Hereditary Paraganglioma-Pheochromocytoma Syndrome PMID 22541004 2012 Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.

PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

rs121908814 in TMEM127;CIAO1 gene and Neoplastic Syndromes, Hereditary PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.

PMID 22541004 2012 Identical germline mutations in the TMEM127 gene in two unrelated Japanese patients with bilateral pheochromocytoma.

rs121908819 in TMEM127;CIAO1 gene and Pheochromocytoma PMID 20154675 2010 Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

PMID 21156949 2010 Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.