Protein-coding gene in the species Homo sapiens
PNKD Identifiers Aliases PNKD External IDs OMIM : 609023 ; MGI : 1930773 ; HomoloGene : 75045 ; GeneCards : PNKD ; OMA :PNKD - orthologs RNA expression patternBgee Human Mouse (ortholog)Top expressed in right uterine tube right lobe of liver mucosa of transverse colon right lobe of thyroid gland left lobe of thyroid gland Brodmann area 9 right frontal lobe prefrontal cortex cingulate gyrus anterior cingulate cortex
Top expressed in pontine nuclei superior colliculus yolk sac CA3 field right kidney perirhinal cortex medulla oblongata central gray substance of midbrain primary visual cortex entorhinal cortex
More reference expression data
BioGPS
Wikidata
PNKD is the abbreviation for a human neurological movement disorder paroxysmal nonkinesiogenic dyskinesia . Like many other human genetics disorders, PNKD also refers to the disease, the disease gene and the encoded protein. (PNKD) is a protein that in humans is encoded by the PNKD gene .[ 5] [ 6] Alternative splicing results in the transcription of three isoforms . The mouse ortholog is called brain protein 17 (Brp17).
^ a b c GRCh38: Ensembl release 89: ENSG00000127838 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026179 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Fink JK, Rainer S, Wilkowski J, Jones SM, Kume A, Hedera P, Albin R, Mathay J, Girbach L, Varvil T, Otterud B, Leppert M (July 1996). "Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q" . American Journal of Human Genetics . 59 (1): 140–5. PMC 1915128 PMID 8659518 . ^ "Entrez Gene: PNKD paroxysmal nonkinesiogenic dyskinesia" . 
