Aliases for KRTAP10-1 Gene
External Ids for KRTAP10-1 Gene
Previous HGNC Symbols for KRTAP10-1 Gene
Previous GeneCards Identifiers for KRTAP10-1 Gene
This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for KRTAP10-1 Gene
KRTAP10-1 (Keratin Associated Protein 10-1) is a Protein Coding gene. Diseases associated with KRTAP10-1 include Li-Fraumeni Syndrome 2 and Li-Fraumeni Syndrome 1. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP10-5.
UniProtKB/Swiss-Prot Summary for KRTAP10-1 Gene
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.