DISEASES

Disease-gene associations mined from literature

Literature associating KRTAP22-2 and 3-M syndrome

KRTAP22-2 [ENSP00000372281]

Keratin-associated protein 22-2; 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 KRTAP type 20 family.

Synonyms:  KRTAP22-2,  Q3LI68,  Q3LI68p,  hQ3LI68,  100288287 ...

Linkouts:  STRING  Pharos  UniProt