Aliases for KRTAP9-9 Gene
External Ids for KRTAP9-9 Gene
Previous HGNC Symbols for KRTAP9-9 Gene
Previous GeneCards Identifiers for KRTAP9-9 Gene
This protein is 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 protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 2015]
GeneCards Summary for KRTAP9-9 Gene
KRTAP9-9 (Keratin Associated Protein 9-9) is a Protein Coding gene. Diseases associated with KRTAP9-9 include Leukoencephalopathy With Vanishing White Matter. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP9-2.
UniProtKB/Swiss-Prot Summary for KRTAP9-9 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.