PANK2 Polyclonal Antibody, AbBy Fluor-680 Conjugated

Catalogue Number: BS-8338R-BF680-BSS

Manufacturer:	Bioss Inc
Type:	Polyclonal Primary Antibody - Conjugated
Alias:	Pantothenate kinase 2, mitochondrial; hPanK2; Pantothenic acid kinase 2; PANK2; C20orf48; PANK2_HUMAN
Shipping Condition:	Blue Ice
Unit(s):	100 ul
Host name:	Rabbit
Clone:
Isotype:	IgG
Immunogen:	KLH conjugated synthetic peptide derived from human PANK2
Application:	ICC, IF, IHC-P, WB, IHC-Fr

Overview
Datasheets

Description

Description: Defects in PANK2 are the cause of neurodegeneration with brain iron accumulation type 1 (NBIA1); also known as pantothenate kinase-associated neurodegeneration (PKAN) or Hallervorden-Spatz syndrome (HSS). It is an autosomal recessive neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. Clinical manifestations include progressive muscle spasticity, hyperreflexia, muscle rigidity, dystonia, dysarthria, and intellectual deterioration which progresses to severe dementia over several years. It is clinically classified into classic, atypical, and intermediate phenotypes. Classic forms present with onset in the first decade, rapid progression, loss of independent ambulation within 15 years. Atypical forms have onset in the second decade, slow progression, maintenance of independent ambulation up to 40 years later. Intermediate forms manifest onset in the first decade with slow progression or onset in the second decade with rapid progression. Patients with early onset tend to also develop pigmentary retinopathy, whereas those with later onset tend to also have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI.Defects in PANK2 are the cause of hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP). HARP is a rare syndrome with many clinical similarities to NBIA1.

Additional Text

Gene Name

PANK2

Gene ID

80025

Uniprot ID

Q9BZ23

Purification

Protein A purified

Concentration

1 ug/ul

Antibody Clonality

Polyclonal

Modification

Unmodified

Storage Note

Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.

Excitation

679nm/702nm

BS-8338R-BF680 Datasheet

Price

£379.00

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