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  3. MAB21L1 - mab-21 like 1 Gene

MAB21L1 - mab-21 like 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：mab-21 样 1

种属: Homo sapiens

同用名: COFG; CAGR1; Nbla00126

基因 ID: 4081 | 基因类型: protein coding

关于 MAB21L1

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:35,473,789-35,476,689 (from NCBI)

This gene has 1 transcript (splice variant), 203 orthologues, 9 paralogues and is associated with 2 phenotypes.

功能概要

该基因类似于秀丽隐杆线虫中发现的 MAB-21 细胞命运决定基因。它可能参与眼睛和小脑的发育，并且有人提出 5' UTR 中三核苷酸重复区域的扩展可能在多种精神疾病中发挥作用。[RefSeq 提供，2008 年 10 月]

This gene is similar to the MAB-21 cell fate-determining gene found in C. elegans. It may be involved in eye and cerebellum development, and it has been proposed that expansion of a trinucleotide repeat region in the 5' UTR may play a role in a variety of psychiatric disorders. [provided by RefSeq, Oct 2008]

MAB21L1 基因产物(1)

mRNA Protein Name
NM_005584.5 NP_005575.1 putative nucleotidyltransferase MAB21L1

MAB21L1 蛋白结构

Mab-21

Mab-21: Mab-21 protein (62 - 346)

  • 0
  • 100
  • 200
  • 300
  • 359 a.a.
蛋白主名 其他名称

putative nucleotidyltransferase MAB21L1

mab-21-like protein 1

关联疾病

疾病名称 别名
Cerebellar, Ocular, Craniofacial, And Genital Syndrome

COFG
Cerebellar Hypoplasia
Hydrophthalmos
Glaucoma 3, Primary Congenital, A

Buphthalmos

Glaucoma, Congenital

Congenital Glaucoma

Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset

GLC3A

Glc3

Buphthalmia

Primary Congenital Glaucoma

Glaucoma, Primary Open Angle, Juvenile-Onset

Simple Buphthalmos

Buphthalmus

Glaucoma, Primary Open Angle, Adult-Onset

Primary Congenital Glaucoma 3a

Primary Infantile Glaucoma Type 3a

Glaucoma 3a, Primary Congenital

Glaucoma, Congenital, Primary, Type 3a

Hydrophthalmos

Cystic Eyeball
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07938 MAB21L1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus MAB21L1 VGNC VGNC:31127
Macaca mulatta MAB21L1 VGNC VGNC:74470
Felis catus MAB21L1 VGNC VGNC:68121
Mus musculus MAB21L1 MGD MGI:1333773
Canis familiaris MAB21L1 VGNC VGNC:42910
Rattus norvegicus MAB21L1 RGD RGD:1589984
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