APLF - aprataxin and PNKP like factor Gene

Homo sapiens

Also known as APFL; PALF; Xip1; ZCCHH1; C2orf13

Gene ID: 200558 | Gene type: protein coding

About APLF

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:68,467,585-68,580,162 (from NCBI)

This gene has 6 transcripts (splice variants) and 180 orthologues. Ubiquitous expression in testis (RPKM 1.6), skin (RPKM 1.2) and 24 other tissues.

Summary

C2ORF13 is a component of the cellular response to chromosomal DNA single- and double-strand breaks (Iles et al., 2007 [PubMed 17353262]).[supplied by OMIM, Mar 2008]

APLF Products(1)

mRNA	Protein	Name
NM_173545.3	NP_775816.1	aprataxin and PNK-like factor

APLF Protein Structure

zf-CCHH

0
100
200
300
400
511 a.a.

Protein Preferred Names

Protein Names

aprataxin and PNK-like factor

PNK and APTX-like FHA domain-containing protein

Related Diseases

Diseases

Alias

Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures

CONDSIAS

Stress-Induced Childhood-Onset Neurodegeneration With Variable Ataxia And Seizures

Inhalation Anthrax

Pulmonary Anthrax	Respiratory Anthrax
Inhalational Anthrax	Wool-Sorters' Disease
Woolsorters' Disease	Inhalation Anthrax Disease
Respiratory Anthrax Disease

Osgood-Schlatter'S Disease

Osgood-Schlatter Disease	Juvenile Osteochondrosis Of Tibial Tubercle
Osteochondrosis	Osteochondritis Of Tibial Tubercle
Osteochondrosis Of Proximal Tibia	Aseptic Necrosis Of The Tibial Tubercle
Osteochondrosis Of The Tibial Tubercle	Osteochondritis Juvenilis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00821	APLF Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	APLF	VGNC	VGNC:59203
Macaca mulatta	APLF	VGNC	VGNC:106127
Felis catus	APLF	VGNC	VGNC:79992
Mus musculus	APLF	MGD	MGI:1919353
Rattus norvegicus	APLF	RGD	RGD:1565557
Canis familiaris	APLF	VGNC	VGNC:53960