Aliases for KRTAP10-2 Gene
External Ids for KRTAP10-2 Gene
Previous HGNC Symbols for KRTAP10-2 Gene
Previous GeneCards Identifiers for KRTAP10-2 Gene
This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]
GeneCards Summary for KRTAP10-2 Gene
KRTAP10-2 (Keratin Associated Protein 10-2) is a Protein Coding gene. Diseases associated with KRTAP10-2 include Deafness, Autosomal Recessive 98 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Developmental Biology and Keratinization. An important paralog of this gene is KRTAP10-9.
UniProtKB/Swiss-Prot Summary for KRTAP10-2 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.