PPP1R12C - protein phosphatase 1 regulatory subunit 12C Gene

Homo sapiens

Also known as p84; p85; AAVS1; LENG3; MBS85

Gene ID: 54776 | Gene type: protein coding

About PPP1R12C

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:55,090,918-55,117,637 (from NCBI)

This gene has 9 transcripts (splice variants), 176 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 32.8), endometrium (RPKM 32.5) and 25 other tissues.

Summary

The gene encodes a subunit of myosin Phosphatase. The encoded protein regulates the catalytic activity of protein Phosphatase 1 delta and assembly of the actin Cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

PPP1R12C Products(2)

mRNA	Protein	Name
NM_001271618.2	NP_001258547.1	protein phosphatase 1 regulatory subunit 12C isoform b
NM_017607.4	NP_060077.1	protein phosphatase 1 regulatory subunit 12C isoform a

PPP1R12C Protein Structure

Ank_2

0
200
400
600
782 a.a.

Protein Preferred Names

Protein Names

protein phosphatase 1 regulatory subunit 12C

leukocyte receptor cluster (LRC) encoded novel gene 3

Related Diseases

Diseases

Alias

Granulomatous Disease, Chronic, X-Linked

CGDX	Chronic Granulomatous Disease, X-Linked
X-Linked Chronic Granulomatous Disease	Cgd
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked	Cdgx
X-Linked Chronic Cytochrome B-Negative Granulomatous Disease	Chronic Granulomatous Disease Cytochrome B-Negative X-Linked
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked	Granulomatous Disease, Chronic, X-Linked, Variant

Phagocyte Bactericidal Dysfunction

Phagocytic Dysfunction

Sulfamethoxazole Allergy

Smx Allergy	Smz Allergy
Sulphamethoxazole Allergy

Brachydactyly, Type D

Brachydactyly Type D	BDD
Stub Thumb	Brachydactyly D

Hemophilia B

Christmas Disease	Factor Ix Deficiency
F9 Deficiency	HEMB
Plasma Thromboplastin Component Deficiency	Congenital Factor Ix Deficiency
Mild Hemophilia B	Severe Hemophilia B
Congenital Factor Ix Disorder	Deficiency, Functional Factor Ix
Hem B	Mild Congenital F9 Deficiency
Mild Congenital Factor Ix Deficiency	Moderate Hemophilia B
Moderate Congenital F9 Deficiency	Moderate Congenital Factor Ix Deficiency
Severe Congenital F9 Deficiency	Severe Congenital Factor Ix Deficiency
Bleeding Disorder In Hemophilia B Carriers	Congenital F9 Deficiency
Recessive X-Linked Hemophilia B

Chronic Granulomatous Disease

Cgd	Granulomatous Disease, Chronic
Autosomal Recessive Chronic Granulomatous Disease	X-Linked Chronic Granulomatous Disease
Bridges-Good Syndrome	Congenital Dysphagocytosis
Quie Syndrome	Chronic Septic Granulomatosis
Chronic Granulomatous Disorder	Granulomatous Disease Chronic
Granulomatous Disease, Chronic, X-Linked

Recessive Dystrophic Epidermolysis Bullosa

Autosomal Recessive Dystrophic Epidermolysis Bullosa Generalisata Gravis	Autosomal Recessive Dystrophic Epidermolysis Bullosa, Hallopeau-Siemens Type
Rdeb, Hallopeau-Siemens Type	Severe Generalized Rdeb
Severe Generalized Recessive Dystrophic Epidermolysis Bullosa	Rdeb Generalisata Gravis
Rdeb, Severe Generalized	Rdeb-Sev Gen
Recessive Dystrophic Epidermolysis Bullosa, Severe Generalized	Hallopeau-Siemens Disease

Factor Viii Deficiency

Autosomal Hemophilia A	Hemophilia A
Autosomal Factor Viii Deficiency	Classic Hemophilia A
Congenital Factor Viii Disorder	Subhemophilia
Factor 8 Deficiency, Congenital	Factor Viii

Hemoglobinopathy

Hemoglobinopathies

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10980	PPP1R12C Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PPP1R12C	VGNC	VGNC:104707
Rattus norvegicus	PPP1R12C	RGD	RGD:1584883
Bos taurus	PPP1R12C	VGNC	VGNC:52229
Felis catus	PPP1R12C	VGNC	VGNC:64317
Mus musculus	PPP1R12C	MGD	MGI:1924258
Canis familiaris	PPP1R12C	VGNC	VGNC:44880

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