actin-associated protein 2E4/kaptin [Homo sapiens]

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KPTN-Related Disorder. [GeneReviews(®). 1993]
KPTN-Related Disorder.
Rawlins LE, Crino PB, Iffland PH, Crosby AH, Baple EL. GeneReviews(®). 1993-2024. 2024 Aug 1
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment. [Clin Genet. 2023]
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.
Liaqat K, Bharadwaj T, Shah K, Nasir A, Acharya A, Khan S, Ullah I, Schrauwen I, Ahmad W, Leal SM. Clin Genet. 2023 Oct; 104(4):499-501. Epub 2023 Jun 13.
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. [Am J Med Genet A. 2020]
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
Pacio Miguez M, Santos-Simarro F, García-Miñaúr S, Velázquez Fragua R, Del Pozo Á, Solís M, Jiménez Rodríguez C, Rufo-Rabadán V, Fernandez VE, Rueda I, et al. Am J Med Genet A. 2020 Oct; 182(10):2222-2225. Epub 2020 Aug 18.

RefSeq genomic sequence
See the genomic reference sequence for the KPTN gene (NG_034097.1).

Nucleotide
Nucleotide sequence from coding region
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
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Protein