SDHD

GENE INFORMATION

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Gene name

SDHD (HGNC Symbol)

Synonyms

PGL, PGL1

Description

Succinate dehydrogenase complex, subunit D, integral membrane protein (HGNC Symbol)

Entrez gene summary

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

Chromosome

11

Cytoband

q23.1

Chromosome location (bp)

112086773 - 112120013

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000204370 (version 78.38)

Entrez gene

6392

UniProt

O14521 (UniProt - Evidence at protein level)

neXtProt

NX_O14521

Antibodypedia

SDHD antibodies
 

PROTEIN VIEW

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SDHD-001
 
SDHD-002
 
SDHD-003
 
SDHD-004
 
SDHD-005
 
SDHD-006
 
SDHD-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SDHD-001 ENSP00000364699
ENST00000375549
O14521
Show all »
Show » Show » 159 17 Yes 2
SDHD-002 ENSP00000435475
ENST00000528182
E9PK73
Show all »
Show » Show » 131 14.4 Yes 1
SDHD-003 ENSP00000436217
ENST00000528048
O14521
Show all »
Show » Show » 85 9.7 Yes 0
SDHD-004 ENSP00000432465
ENST00000528021
G3V173
Show all »
Show » Show » 104 11.1 Yes 1
SDHD-005 ENSP00000436669
ENST00000525291
O14521
Show all »
Show » Show » 120 12.6 Yes 1
SDHD-006 ENSP00000432005
ENST00000526592
O14521
Show all »
Show » Show » 143 15.4 Yes 1
SDHD-201 ENSP00000480666
ENST00000614349
O14521
Show all »
Show » Show » 143 15.4 Yes 1