학술논문
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1.
Document Type
Article
Author
Source
Subject
*HYPOGONADISM
*KLINEFELTER'S syndrome
*KALLMANN syndrome
*GENETIC disorders
*CONGENITAL disorders
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Language
ISSN
2041-2649
Abstract
It is accepted that confusion regarding the description of genetic variants occurs when researchers do not use standard nomenclature. The Human Genome Organization Gene Nomenclature Committee contacted a panel of consultants, all working on the KAL1 gene, to propose an update of the nomenclature of the gene, as there was a convention in the literature of using the 'KAL1' symbol, when referring to the gene, but using the name 'anosmin-1' when referring to the protein. The new name, ANOS1, reflects protein name and is more transferrable across species. [ABSTRACT FROM AUTHOR]