DISEASES

Disease-gene associations mined from literature

Literature associating GRHL1 and autosomal dominant nonsyndromic deafness 28

GRHL1 [ENSP00000324693]

Grainyhead-like protein 1 homolog; Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3'. Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity). Isoform 1 may function as an activator and isoform 2 as a repressor in tissues where both forms are expressed.

Synonyms:  GRHL1,  GRHL1p,  hGRHL1,  B7Z1S6,  C9JYY8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM