(Q21112068)

English

Chromosome 19 open reading frame 12

mammalian protein found in Homo sapiens

C19orf12
neurodegeneration with brain iron accumulation 3
membrane protein-associated neurodegeneration
protein C19orf12

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Statements

1 reference

13 November 2019

Protein C19orf12 homologue

1 reference

stated in

InterPro Release 71.0

reference URL

http://www.ebi.ac.uk/interpro/protein/Q9NSK7

1 reference

13 November 2019

1 reference

13 November 2019

integral component of membrane

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

determination method

IEA

endoplasmic reticulum

3 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

8 April 2019

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

8 April 2019

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

3 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

8 April 2019

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

8 April 2019

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

determination method

IEA

mitochondrial membranes

1 reference

8 April 2019

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

1 reference

8 April 2019

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

determination method

IMP

response to oxidative stress

1 reference

8 April 2019

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

determination method

IMP

mitochondrial calcium ion homeostasis

1 reference

8 April 2019

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NSK7

determination method

IMP

Identifiers

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

30 May 2020

1 reference

13 November 2019

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

(Q21112068)

Chromosome 19 open reading frame 12

Statements

Identifiers

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