Property Summary

NCBI Gene PubMed Count 7
PubMed Score 4.60
PubTator Score 5.44

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
malignant mesothelioma 1.100 3.7e-06
astrocytic glioma -1.100 3.9e-02
oligodendroglioma -1.300 2.8e-02
psoriasis 1.200 3.8e-04
ependymoma -1.100 2.2e-07
atypical teratoid / rhabdoid tumor -1.600 8.3e-08
glioblastoma -1.400 1.0e-04
primitive neuroectodermal tumor -1.100 1.8e-03
subependymal giant cell astrocytoma -1.115 1.1e-02
ovarian cancer 1.200 4.9e-05

Synonym

Accession A6NFY7 B2RPM7 SDH assembly factor 1
Symbols LYRM8

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (3)

PMID Text
26749241 that SDHAF1 contributes to iron-sulfur (Fe-S) cluster incorporation into the Fe-S subunit of CII, SDHB.
23174333 Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade.
22995659 Leukoencephalopathy with accumulated succinate is a key symptom of defective complex II assembly due to SDHAF1 mutations

AA Sequence

MSRHSRLQRQVLSLYRDLLRAGRGKPGAEARVRAEFRQHAGLPRSDVLRIEYLYRRGRRQLQLLRSGHAT      1 - 70
AMGAFVRPRAPTGEPGGVGCQPDDGDSPRNPHDSTGAPETRPDGR                              71 - 115
//

Text Mined References (11)

PMID Year Title
26749241 2016 Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24954417 2014 The LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenase.
23174333 2013 The role of complex II in disease.
22995659 2012 Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
19465911 2009 SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
19328947 2009 Impact of a polymorphism in the IL-12p40 gene on the outcome of kidney transplantation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.