Disease-gene associations mined from literature

Literature associating KRTAP10-1 and Li-Fraumeni syndrome 2

KRTAP10-1 [ENSP00000383226]

High sulfur keratin-associated protein 10.1; 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.

Synonyms:  KRTAP10-1,  P60331,  KAP10.1,  KAP18-1,  KAP18.1 ...

Linkouts:  STRING  Pharos  UniProt