RFXANK

Gene name: regulatory factor X-associated ankyrin-containing protein
OMIM ID: 603200
Chromosome location: 19p13.11

Mutations

Disease/Phenotype	Major histocompatibility complex class II deficiency
Reference transcript	NM_003721.2
DNA Change	c.338-25_338del26
A.A. Change
Exon/Intron	exon 6
Mutation Type	deletion
Reference	Naamane H, El Maataoui O, Ailal F, Barakat A, Bennani S, Najib J, Hassar M, Saile R, Bousfiha AA.The 752delG26 mutation in the RFXANK gene associated with major histocompatibility complex class II deficiency: evidence for a founder effect in the Moroccan population. Eur J Pediatr. 2010 Sep;169(9):1069-74.

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