IFRD1

This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

Description

interferon-related developmental regulator 1

Protein family

Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

7:q31.1 (112422968 - 112481017)

Ensembl ID

ENSG00000006652  (ver. 84.38)

Orthologs

Mouse Ifrd1: ENSMUSG00000001627

UniProt

O00458

neXtProt

NX_O00458

Human splice variants
Mouse splice variants