PNKD information

PNKD
Identifiers
Aliases	PNKD, BRP17, DYT8, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2, FKSG19, paroxysmal nonkinesigenic dyskinesia, PNKD1, MBL domain containing, MR-1S, PNKD metallo-beta-lactamase domain containing, R1
External IDs	OMIM: 609023; MGI: 1930773; HomoloGene: 75045; GeneCards: PNKD; OMA:PNKD - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	218,346,793 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	74,392,853 bp
RNA expression pattern
	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
	n/a
Gene ontology
Molecular function	hydroxyacylglutathione hydrolase activity; protein binding; hydrolase activity; metal ion binding;
Cellular component	cytoplasm; membrane; mitochondrion; nucleus;
Biological process	regulation of synaptic transmission, dopaminergic; methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione; negative regulation of neurotransmitter secretion; neuromuscular process controlling posture; regulation of dopamine metabolic process;
	Sources:Amigo / QuickGO
Orthologs
	25953
	56695
	ENSG00000127838
	ENSMUSG00000026179
	Q8N490
	Q69ZP3
	NM_022572; NM_001077399; NM_015488
	NM_001039509; NM_019999; NM_025580
	NP_001070867; NP_056303; NP_072094
	NP_001034598; NP_064383; NP_079856
	Wikidata
View/Edit Human	View/Edit Mouse

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".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000127838 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026179 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8659518-5] 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-6] "Entrez Gene: PNKD paroxysmal nonkinesiogenic dyskinesia".

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