AMMECR1 - AMMECR nuclear protein 1 Gene

Homo sapiens

Also known as MFHIEN; AMMERC1

Gene ID: 9949 | Gene type: protein coding

About AMMECR1

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:110,194,186-110,440,233 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 5.1), esophagus (RPKM 4.2) and 24 other tissues.

Summary

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

AMMECR1 Products(3)

mRNA	Protein	Name
NM_001025580.2	NP_001020751.1	nuclear protein AMMECR1 isoform 2
NM_001171689.2	NP_001165160.1	nuclear protein AMMECR1 isoform 3
NM_015365.3	NP_056180.1	nuclear protein AMMECR1 isoform 1

AMMECR1 Protein Structure

AMMECR1

0
100
200
300
333 a.a.

Protein Preferred Names

Protein Names

nuclear protein AMMECR1

AMME syndrome candidate gene 1 protein

Related Diseases

Diseases

Alias

Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis

MFHIEN

Amme Complex

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis	ATS-MR
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Chromosome Xq22.3 Telomeric Deletion Syndrome
Amme Syndrome	Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis

Alport Syndrome

Hereditary Nephritis	Alport Syndrome, X-Linked
Hemorrhagic Hereditary Nephritis	Congenital Hereditary Hematuria
Hemorrhagic Familial Nephritis	Familial Nephritis
Thin Basement Membrane Disease	Thin Basement Membrane Nephropathy
Hematuria-Nephropathy-Deafness Syndrome	Hematuric Hereditary Nephritis
Hereditary Familial Congenital Hemorrhagic Nephritis	Hereditary Hematuria Syndrome
Hereditary Interstitial Pyelonephritis	Alport Deafness-Nephropathy
Alport Hearing Loss-Nephropathy	Alports Syndrome
Nephritis, Hereditary

Capillary Malformations, Congenital

Familial Multiple Nevi Flammei	Nevi Flammei, Familial Multiple
CMC	Port-Wine Stain
Capillary Malformations	Cmal
Familial Multiple Port-Wine Stains	Capillary Malformation
Capillary Malformations, Congenital, 1, Somatic, Mosaic	Congenital Capillary Malformations
Port-Wine Stain Familial Multiple	Hereditary Capillary Malformations
Capillary Malformations, Hereditary	Capillary Malformations, Congenital, Type 1, Somatic, Mosaic
Strawberry Nevus Of Skin	Naevus Flammeus

Cleft Soft Palate

Cleft Velum	Cleft Velum Palatinum
Soft Cleft Palate	Soft Palate Perforation

Opitz-Kaveggia Syndrome

Fg Syndrome	Fgs1
Fgs	Keller Syndrome
OKS	Fg Syndrome 1
Fg Syndrome Type 1	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome	11p Partial Monosomy Syndrome
Chromosome 11p13 Deletion Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome
11p Deletion Syndrome	Chromosome 11p Deletion Syndrome
Wagr Complex	Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome
Deletion 11p13	WAGR
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	Chromosome 11p Deletion
11p Deletion	11p Monosomy
Deletion 11p	Monosomy 11p
Partial Monosomy 11p	Agr Triad
Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome	Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome
Wagr Contiguous Gene Syndrome	Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome
Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome	Del(11)(P13)
Monosomy 11p13	Chromosome 11, Deletion 11p

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

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-RS00660	AMMECR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AMMECR1	RGD	RGD:1561004
Mus musculus	AMMECR1	MGD	MGI:1860206
Macaca mulatta	AMMECR1	VGNC	VGNC:96555
Bos taurus	AMMECR1	VGNC	VGNC:96541
Canis familiaris	AMMECR1	VGNC	VGNC:81778

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