DISEASES

Disease-gene associations mined from literature

Literature associating RPTN and autosomal recessive congenital ichthyosis

RPTN [ENSP00000317895]

Repetin; Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium; EF-hand domain containing

Synonyms:  RPTN,  Q2M1U7,  Q6XPR3,  Q8N1M7,  Q2M1U7p ...

Linkouts:  STRING  Pharos  UniProt  OMIM