Disease-gene associations mined from literature

Literature associating KRTAP10-5 and frontometaphyseal dysplasia

KRTAP10-5 [ENSP00000383223]

High sulfur keratin-associated protein 10.5; 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 10 family.

Synonyms:  KRTAP10-5,  P60370,  KAP10.5,  KAP18-5,  KAP18.5 ...

Linkouts:  STRING  Pharos  UniProt