Genes Flashcards
1
Q
MEN1 gene
A
Encodes menin (tumour suppressor)
Location 11q13
Mutation leads to MEN1
2
Q
PHOX2B and ALK genes
A
Familial neuroblastoma
3
Q
CYP21 gene
A
Location 6p21.3
Encodes 21-hydroxylase
Deficiency leads to congenital adrenal hyperplasia (most common cause)
Other genes causing CAH: CYP11B1, CYP17, HSD3B2, STAR, POR
4
Q
RET gene
A
Proto-oncogene
Tyrosine kinase
Location: 10q11.2
Activating mutations cause MEN2
