Human chromosome 1 open reading frame 69 ELISA Kit | C1orf69 elisa kit

Human Putative transferase CAF17, mitochondrial, C1orf69 ELISA Kit

Cat. Num. AAA9337311

• Gene Names: IBA57; MMDS3; C1orf69
• Reactivity: Human
• Synonyms: chromosome 1 open reading frame 69; Human Putative transferase CAF17; mitochondrial; C1orf69 ELISA Kit; mitochondrial (C1orf69) ELISA kit; RP11-520H14.5; FLJ12734; FLJ13849; ; C1orf69 elisa kit

• Reactivity: Human

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

NCBI and Uniprot Product Information

• NCBI GI #: 58197556
• NCBI GeneID: 200205
• NCBI Accession #: NP_001010867.1
• NCBI GenBank Nucleotide #: NM_001010867.2
• UniProt Accession #: Q5T440
• Molecular Weight: 38,155 Da
• NCBI Official Full Name: putative transferase CAF17, mitochondrial
• NCBI Official Synonym Full Names: IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
• NCBI Official Symbol: IBA57
• NCBI Official Synonym Symbols: MMDS3; C1orf69
• NCBI Protein Information: putative transferase CAF17, mitochondrial; iron-sulfur cluster assembly factor homolog; putative transferase C1orf69, mitochondrial; iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
• UniProt Protein Name: Putative transferase CAF17, mitochondrial
• UniProt Gene Name: IBA57
• UniProt Synonym Gene Names: C1orf69
• UniProt Entry Name: CAF17_HUMAN

NCBI Description

The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]

Uniprot Description

A230051G13Rik: Required for normal heme biosynthesis. Belongs to the GcvT family. CAF17 subfamily.

Protein type: EC 2.1.-.-; Methyltransferase

Chromosomal Location of Human Ortholog: 1q42.13

Cellular Component: mitochondrial matrix

Molecular Function: transferase activity

Biological Process: iron-sulfur cluster assembly; heme biosynthetic process

Disease: Multiple Mitochondrial Dysfunctions Syndrome 3; Spastic Paraplegia 74, Autosomal Recessive