DISEASES

Disease-gene associations mined from literature

Literature associating KRTAP25-1 and 3-M syndrome

KRTAP25-1 [ENSP00000398619]

Keratin-associated protein 25-1; 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 (By similarity); Belongs to the PMG family.

Synonyms:  KRTAP25-1,  Q3LHN0,  Q3LHN0p,  hQ3LHN0,  100131902 ...

Linkouts:  STRING  Pharos  UniProt