DISEASES

Disease-gene associations mined from literature

Literature associating KRTAP8-1 and retinitis pigmentosa 42

KRTAP8-1 [ENSP00000332805]

Keratin-associated protein 8-1; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin- associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins; Belongs to the KRTAP type 8 family.

Synonyms:  KRTAP8-1,  Q8IUC2,  Q8IUC2p,  hQ8IUC2,  337879 ...

Linkouts:  STRING  Pharos  UniProt