Aliases for KPTN Gene
External Ids for KPTN Gene
This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. Mutations in this gene result in recessive mental retardation-41. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
GeneCards Summary for KPTN Gene
KPTN (Kaptin (Actin Binding Protein)) is a Protein Coding gene. Diseases associated with KPTN include mental retardation, autosomal recessive 41 and macrocephaly-developmental delay syndrome. GO annotations related to this gene include actin binding.
UniProtKB/Swiss-Prot for KPTN Gene
Necessary for normal neuromorphogenesis. May be involved in actin dynamics. May play a role in producing the sensory apparatus in hair cells. May play a role in actin rearrangements that accompany platelet activation and stereocilia formation.