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TMEM127 transmembrane protein 127

Gene ID: 55654, updated on 24-Mar-2023
Gene type: protein coding


This gene encodes a transmembrane protein with four 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. [provided by RefSeq, Aug 2022]

Copy number response

Copy number response

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-07-13)

ClinGen Genome Curation PagePubMed

No evidence available (Last evaluated 2021-07-13)

ClinGen Genome Curation Page

Genomic context

Chromosome: 2; NC_000002.12 (96248514..96265997, complement)
Total number of exons:


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