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  2. PGM2L1 - phosphoglucomutase 2 like 1 Gene

PGM2L1 - phosphoglucomutase 2 like 1 Gene

中文名称:磷酸葡萄糖变位酶 2 样 1

种属: Homo sapiens

同用名: BM32A; PMMLP

基因 ID: 283209 | 基因类型: protein coding

关于 PGM2L1

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:74,330,316-74,398,433 (from NCBI)

This gene has 2 transcripts (splice variants), 203 orthologues, 6 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 28.2), endometrium (RPKM 3.0) and 7 other tissues.

功能概要

启用葡萄糖-1,6-二磷酸合酶活性。预计参与葡萄糖代谢过程和磷酸化。预测位于胞质溶胶中。 [由基因组资源联盟提供,2022 年 4 月]

Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process and phosphorylation. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

PGM2L1 基因产物(1)

mRNA Protein Name
NM_173582.6 NP_775853.2 glucose 1,6-bisphosphate synthase

PGM2L1 蛋白结构

PGM_PMM_I

PGM_PMM_I: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I (65 - 208)

PGM_PMM_II

PGM_PMM_II: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II (238 - 345)

PGM_PMM_III

PGM_PMM_III: Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III (354 - 482)

PGM_PMM_IV

PGM_PMM_IV: Phosphoglucomutase/phosphomannomutase, C-terminal domain (550 - 591)

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蛋白主名 其他名称

glucose 1,6-bisphosphate synthase

关联疾病

疾病名称 别名
Cerebral Creatine Deficiency Syndrome 1

Creatine Transporter Deficiency

Creatine Transporter Defect

Slc6a8 Deficiency

X-Linked Creatine Deficiency Syndrome

CCDS1

Creatine Deficiency Syndrome, X-Linked

X-Linked Creatine Deficiency

Creatine Deficiency, X-Linked

X-Linked Creatine Transporter Deficiency

Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia

Mental Retardation, X-Linked, With Creatine Transport Deficiency

Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia

Intellectual Disability, X-Linked, With Creatine Transport Deficiency

Slc6a8-Related Creatine Transporter Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 1

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
Rattus norvegicus PGM2L1 RGD RGD:1583226
Mus musculus PGM2L1 MGD MGI:1918224
Canis familiaris PGM2L1 VGNC VGNC:44465
Felis catus PGM2L1 VGNC VGNC:64125
Bos taurus PGM2L1 VGNC VGNC:32795
Macaca mulatta PGM2L1 VGNC VGNC:75839