1. Gene
  2. AMTN - amelotin Gene

AMTN - amelotin Gene

中文名称:釉蛋白

种属: Homo sapiens

同用名: AI3B; UNQ689

基因 ID: 401138 | 基因类型: protein coding

关于 AMTN

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:70,518,569-70,532,743 (from NCBI)

This gene has 2 transcripts (splice variants), 91 orthologues and is associated with 2 phenotypes. Biased expression in stomach (RPKM 3.1), prostate (RPKM 1.0) and 1 other tissue.

功能概要

牙齿的矿化部分,即牙本质和牙釉质,分别由间充质衍生的成牙本质细胞和上皮衍生的成釉细胞形成。随着成釉细胞分化,它们会在有机釉质基质中沉积釉质形成所需的特定蛋白质,包括釉原蛋白 (AMELX;MIM 300391) 、釉质蛋白 (ENAM;MIM 606585) 和成釉蛋白 (AMBN;MIM 601259) 。 Amelotin 在成熟阶段的成釉细胞中特异性表达 (Iwasaki 等人,2005 [PubMed 16304441]) 。[OMIM 提供,2008 年 3 月]

The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enamel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008]

AMTN 基因产物(2)

mRNA Protein Name
NM_001286731.2 NP_001273660.1 amelotin isoform 2 precursor
NM_212557.4 NP_997722.1 amelotin isoform 1 precursor
蛋白主名 其他名称

amelotin

RSTI689

重组 AMTN 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76725 Amelotin Protein, Human (HEK293, Fc) Q6UX39-1 (L17-Q209) ≥95%

关联疾病

疾病名称 别名
Amelogenesis Imperfecta, Type Iiib

Amelogenesis Imperfecta Type 3b

AI3B

Amelogenesis Imperfecta 3b

Amelogenesis Imperfecta, Type Iiia

Ai3

Adhcai

Amelogenesis Imperfecta Type 3

AI3A

Amelogenesis Imperfecta, Type Iii

Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant

Amelogenesis Imperfecta Type 3a

Amelogenesis Imperfecta Hypomineralization Type

Amelogenesis Imperfecta Type Iii

Hypocalcified Amelogenesis Imperfecta

Amelogenesis Imperfecta, Type 3

Amelogenesis Imperfecta, Hypomineralization Type

Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type

Amelogenesis Imperfecta 3a

Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant

Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]

Amelogenesis Imperfecta, Type Iiic

AI3C

Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive

Amelogenesis Imperfecta Type 3c

Amelogenesis Imperfecta, Type 3c

Amelogenesis Imperfecta Type Iiic

Autosomal Recessive Amelogenesis Imperfecta Hypocalcification Type

Amelogenesis Imperfecta 3c

Amelogenesis Imperfecta, Type Iv

AI4

Aihht

Amelogenesis Imperfecta Type 4

Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, With Taurodontism

Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type With Taurodontism

Amelogenesis Imperfecta 4

Ait

Amelogenesis Imperfecta 2 Hypocalcification Type

Amelogenesis Imperfecta Hypomineralization Type

Amelogenesis Imperfecta Type Iv

Amelogenesis Imperfecta With Taurodontism

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2

X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 2

Enamel Hypoplasia, X-Linked

Aih3

Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly

Aih3, Formerly

Amelogenesis Imperfecta, Type Ie, X-Linked 2

Amelogenesis Imperfecta Type Ie X-Linked 2

Amelogenesis Imperfecta 3 Hypoplastic Type

X-Linked Enamel Hypoplasia

Amelogenesis Imperfecta 3, Hypoplastic Type

Amelogenesis Imperfecta-3, Hypoplastic Type

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1

Dental Fluorosis

Mottled Teeth

Intrinsic Enamel Discolouration Of Fluorosis

Mottling Of Enamel

Fluorosis, Dental

Dental Fluorosis, Acquired

Amelogenesis Imperfecta, Hypomaturation Type, Iia2

Amelogenesis Imperfecta Hypomaturation Type 2a2

AI2A2

Amelogenesis Imperfecta, Type Iia2

Amelogenesis Imperfecta Pigmented Hypomaturation Type 2

Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 2

Amelogenesis Imperfecta Hypomaturation Type Iia2

Amelogenesis Imperfecta Type Iia2

Amelogenesis Imperfecta, Hypomaturation Type, 2a2

Amelogenesis Imperfecta 2 Hypocalcification Type

Amelogenesis Imperfecta, Hypomaturation Type, Iia5

Amelogenesis Imperfecta Hypomaturation Type 2a5

AI2A5

Amelogenesis Imperfecta, Type Iia5

Amelogenesis Imperfecta Hypomaturation Type Iia5

Amelogenesis Imperfecta Type Iia5

Amelogenesis Imperfecta, Hypomaturation Type, 2a5

Amelogenesis Imperfecta, Hypomaturation Type, Iia3

Amelogenesis Imperfecta Hypomaturation Type 2a3

AI2A3

Amelogenesis Imperfecta Hypomaturation Type Iia3

Amelogenesis Imperfecta, Type Iia3

Amelogenesis Imperfecta Type Iia3

Amelogenesis Imperfecta, Hypomaturation Type, 2a3

Teeth Hard Tissue Disease
Amelogenesis Imperfecta, Type Ib

AI1B

Aih2

Amelogenesis Imperfecta Type 1b

Amelogenesis Imperfecta Type Ib

Hereditary Localized Enamel Hypoplasia

Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local

Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant

Enamel Hypoplasia, Hereditary Localized

Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta

Amelogenesis Imperfecta 1b

Amelogenesis Imperfecta Hypoplastic 2

Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant

Junctional Epidermolysis Bullosa

Epidermolysis Bullosa, Junctional

Jeb

Epidermolysis Bullosa Atrophicans

Congenital Junctional Epidermolysis Bullosa

Epidermolysis Bullosa Junctional

Junctional Eb - [Epidermolysis Bullosa]

Jeb - [Junctional Epidermolysis Bullosa]

Lucidolytic Epidermolysis Bullosa

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus AMTN MGD MGI:1918671
Canis familiaris AMTN VGNC VGNC:37841
Felis catus AMTN VGNC VGNC:59772
Bos taurus AMTN VGNC VGNC:25876
Rattus norvegicus AMTN RGD RGD:1592356
Macaca mulatta AMTN VGNC VGNC:69750
Others AMTN NCBI