Human WD repeat domain 72 ELISA Kit | WDR72 elisa kit

Human WD repeat-containing protein 72, WDR72 ELISA Kit

Cat. Num. AAA9325948

• Gene Names: WDR72; AI2A3
• Reactivity: Human
• Synonyms: WD repeat domain 72; Human WD repeat-containing protein 72; WDR72 ELISA Kit; Human WD repeat-containing protein 72 (WDR72) ELISA kit; FLJ38736; MGC126663; MGC126665; OTTHUMP00000162771; WDR72 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 464402377
• NCBI GeneID: 256764
• NCBI Accession #: NP_877435.3
• NCBI GenBank Nucleotide #: NM_182758.3
• UniProt Accession #: Q3MJ13; Q7Z3I3; Q8N8X2
• Molecular Weight: 123,425 Da
• NCBI Official Full Name: WD repeat-containing protein 72 isoform a
• NCBI Official Synonym Full Names: WD repeat domain 72
• NCBI Official Symbol: WDR72
• NCBI Official Synonym Symbols: AI2A3
• NCBI Protein Information: WD repeat-containing protein 72
• UniProt Protein Name: WD repeat-containing protein 72
• Protein Family: WD repeat-containing protein
• UniProt Gene Name: WDR72
• UniProt Entry Name: WDR72_HUMAN

NCBI Description

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Uniprot Description

WDR72: Defects in WDR72 are the cause of amelogenesis imperfecta hypomaturation type 2A3 (AI2A3). A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

Chromosomal Location of Human Ortholog: 15q21.3

Disease: Amelogenesis Imperfecta, Hypomaturation Type, Iia3